SCO2 missense variants in ExAC

SCO2 gene summary
SCO2 variants in

The table below lists the SCO2 missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 50962782 c.59G>C p.R20P missense 0.63925553●●●●●●
2. 50962065 c.776C>T p.A259V missense 0.00292039●●●●●●
3. 50962500 c.341G>A p.R114H missense 0.00077764●●●●●●
4. 50962385 c.456A>T p.E152D missense 0.00052992●●●●●●
5. 50962057 c.784C>T p.R262C missense 0.00022475●●●●●●
6. 50962089 c.752C>T p.S251L missense 0.00018182●●●●●●
7. 50962597 c.244A>G p.K82E missense 0.00013768●●●●●●
8. 50962558 c.283C>T p.R95C missense 0.00011883●●●●●●
9. 50962423 c.418G>A p.E140K missense 0.00009937●●●●●●
10. 50962300 c.541G>A p.V181I missense 0.00009907●●●●●●
11. 50962128 c.713C>T p.T238M missense 0.00009899●●●●●●
12. 50962557 c.284G>A p.R95H missense 0.00008486●●●●●●
13. 50962483 c.358C>T p.R120W missense 0.00008328●●●●●●
14. 50962381 c.460G>A p.E154K missense 0.00008280●●●●●●
15. 50962305 c.536G>A p.R179H missense 0.00008258●●●●●●
16. 50962714 c.127C>G p.P43A missense 0.00007905●●●●●●
17. 50962463 c.378G>A p.M126I missense 0.00007473●●●●●●
18. 50962077 c.764G>T p.R255L missense 0.00006620●●●●●●
19. 50962122 c.719A>G p.Y240C missense 0.00006601●●●●●●
20. 50962605 c.236G>C p.R79T missense 0.00006035●●●●●●
21. 50962395 c.446G>A p.R149Q missense 0.00005796●●●●●●
22. 50962230 c.611G>A p.S204N missense 0.00005770●●●●●●
23. 50962077 c.764G>A p.R255Q missense 0.00004965●●●●●●
24. 50962306 c.535C>T p.R179C missense 0.00004954●●●●●●
25. 50962138 c.703G>A p.G235S missense 0.00004948●●●●●●
26. 50962538 c.303G>C p.Q101H missense 0.00004220●●●●●●
27. 50962507 c.334C>T p.R112W missense 0.00004187●●●●●●
28. 50962281 c.560G>A p.R187K missense 0.00004127●●●●●●
29. 50962551 c.290C>T p.A97V missense 0.00003389●●●●●●
30. 50962362 c.479T>A p.V160E missense 0.00003309●●●●●●
31. 50962320 c.521T>C p.V174A missense 0.00003304●●●●●●
32. 50962117 c.724G>A p.G242S missense 0.00003302●●●●●●
33. 50962114 c.727C>T p.R243W missense 0.00003302●●●●●●
34. 50962225 c.616C>T p.R206C missense 0.00003297●●●●●●
35. 50962177 c.664G>A p.V222M missense 0.00003297●●●●●●
36. 50962198 c.643G>C p.D215H missense 0.00003297●●●●●●
37. 50962815 c.26C>G p.T9R missense 0.00002640●●●●●●
38. 50962735 c.106T>C p.W36R missense 0.00002636●●●●●●
39. 50962725 c.116C>T p.S39L missense 0.00002635●●●●●●
40. 50962506 c.335G>A p.R112Q missense 0.00002512●●●●●●
41. 50962440 c.401C>A p.P134H missense 0.00002487●●●●●●
42. 50962074 c.767G>A p.R256Q missense 0.00002484●●●●●●
43. 50962329 c.512G>A p.R171Q missense 0.00002479●●●●●●
44. 50962321 c.520G>A p.V174I missense 0.00002478●●●●●●
45. 50962314 c.527C>T p.A176V missense 0.00002477●●●●●●
46. 50962264 c.577G>A p.G193S missense 0.00002475●●●●●●
47. 50962222 c.619G>A p.V207M missense 0.00002473●●●●●●
48. 50962825 c.16C>T p.R6W missense 0.00001774●●●●●●
49. 50962695 c.146A>C p.Q49P missense 0.00001756●●●●●●
50. 50962800 c.41T>G p.L14R missense 0.00001752●●●●●●
51. 50962782 c.59G>T p.R20L missense 0.00001732●●●●●●
52. 50962782 c.59G>A p.R20Q missense 0.00001732●●●●●●
53. 50962620 c.221C>A p.A74D missense 0.00001729●●●●●●
54. 50962566 c.275A>T p.E92V missense 0.00001701●●●●●●
55. 50962560 c.281T>C p.L94P missense 0.00001698●●●●●●
56. 50962534 c.307G>A p.D103N missense 0.00001687●●●●●●
57. 50962518 c.323A>G p.D108G missense 0.00001679●●●●●●
58. 50962045 c.796T>C p.S266P missense 0.00001678●●●●●●
59. 50962482 c.359G>A p.R120Q missense 0.00001666●●●●●●
60. 50962435 c.406A>C p.I136L missense 0.00001658●●●●●●
61. 50962069 c.772A>G p.M258V missense 0.00001658●●●●●●
62. 50962408 c.433G>T p.V145L missense 0.00001656●●●●●●
63. 50962410 c.431T>C p.L144P missense 0.00001656●●●●●●
64. 50962362 c.479T>G p.V160G missense 0.00001654●●●●●●
65. 50962094 c.747G>C p.Q249H missense 0.00001653●●●●●●
66. 50962324 c.517G>A p.D173N missense 0.00001653●●●●●●
67. 50962134 c.707T>C p.L236P missense 0.00001650●●●●●●
68. 50962248 c.593T>C p.V198A missense 0.00001649●●●●●●
69. 50962252 c.589C>G p.Q197E missense 0.00001649●●●●●●
70. 50962224 c.617G>A p.R206H missense 0.00001649●●●●●●
71. 50962831 c.10C>G p.L4V missense 0.00000894●●●●●●
72. 50962820 c.21C>A p.S7R missense 0.00000883●●●●●●
73. 50962819 c.22C>A p.P8T missense 0.00000882●●●●●●
74. 50962812 c.29C>T p.A10V missense 0.00000879●●●●●●
75. 50962728 c.113T>C p.L38S missense 0.00000878●●●●●●
76. 50962693 c.148G>A p.G50S missense 0.00000878●●●●●●
77. 50962692 c.149G>A p.G50D missense 0.00000878●●●●●●
78. 50962687 c.154C>G p.P52A missense 0.00000877●●●●●●
79. 50962777 c.64C>T p.L22F missense 0.00000876●●●●●●
80. 50962794 c.47A>G p.Q16R missense 0.00000875●●●●●●
81. 50962797 c.44C>T p.S15F missense 0.00000875●●●●●●
82. 50962669 c.172C>G p.R58G missense 0.00000873●●●●●●
83. 50962783 c.58C>T p.R20W missense 0.00000873●●●●●●
84. 50962668 c.173G>A p.R58Q missense 0.00000872●●●●●●
85. 50962663 c.178C>T p.R60W missense 0.00000871●●●●●●
86. 50962662 c.179G>A p.R60Q missense 0.00000870●●●●●●
87. 50962652 c.189C>G p.I63M missense 0.00000868●●●●●●
88. 50962642 c.199T>C p.F67L missense 0.00000867●●●●●●
89. 50962645 c.196C>G p.L66V missense 0.00000867●●●●●●
90. 50962635 c.206C>T p.A69V missense 0.00000866●●●●●●
91. 50962630 c.211C>T p.L71F missense 0.00000866●●●●●●
92. 50962627 c.214G>A p.G72S missense 0.00000865●●●●●●
93. 50962614 c.227T>C p.L76P missense 0.00000864●●●●●●
94. 50962620 c.221C>T p.A74V missense 0.00000864●●●●●●
95. 50962609 c.232C>G p.L78V missense 0.00000863●●●●●●
96. 50962603 c.238G>A p.A80T missense 0.00000862●●●●●●
97. 50962605 c.236G>A p.R79K missense 0.00000862●●●●●●
98. 50962572 c.269G>T p.R90L missense 0.00000852●●●●●●
99. 50962572 c.269G>A p.R90Q missense 0.00000852●●●●●●
100. 50962552 c.289G>T p.A97S missense 0.00000847●●●●●●
101. 50962536 c.305G>A p.G102D missense 0.00000844●●●●●●
102. 50962514 c.327C>G p.H109Q missense 0.00000839●●●●●●
103. 50962512 c.329G>C p.R110T missense 0.00000838●●●●●●
104. 50962501 c.340C>T p.R114C missense 0.00000836●●●●●●
105. 50962495 c.346A>G p.K116E missense 0.00000835●●●●●●
106. 50962494 c.347A>T p.K116M missense 0.00000834●●●●●●
107. 50962054 c.787A>G p.S263G missense 0.00000834●●●●●●
108. 50962056 c.785G>A p.R262H missense 0.00000833●●●●●●
109. 50962482 c.359G>C p.R120P missense 0.00000833●●●●●●
110. 50962471 c.370G>A p.V124M missense 0.00000832●●●●●●
111. 50962464 c.377T>C p.M126T missense 0.00000830●●●●●●
112. 50962441 c.400C>G p.P134A missense 0.00000829●●●●●●
113. 50962444 c.397T>A p.C133S missense 0.00000829●●●●●●
114. 50962424 c.417C>G p.D139E missense 0.00000828●●●●●●
115. 50962075 c.766C>T p.R256W missense 0.00000828●●●●●●
116. 50962378 c.463C>G p.P155A missense 0.00000828●●●●●●
117. 50962379 c.462G>T p.E154D missense 0.00000828●●●●●●
118. 50962408 c.433G>A p.V145M missense 0.00000828●●●●●●
119. 50962381 c.460G>C p.E154Q missense 0.00000828●●●●●●
120. 50962085 c.756C>G p.D252E missense 0.00000827●●●●●●
121. 50962366 c.475C>G p.P159A missense 0.00000827●●●●●●
122. 50962351 c.490T>C p.F164L missense 0.00000827●●●●●●
123. 50962351 c.490T>G p.F164V missense 0.00000827●●●●●●
124. 50962333 c.508G>A p.E170K missense 0.00000827●●●●●●
125. 50962362 c.479T>C p.V160A missense 0.00000827●●●●●●
126. 50962308 c.533C>G p.A178G missense 0.00000826●●●●●●
127. 50962329 c.512G>C p.R171P missense 0.00000826●●●●●●
128. 50962330 c.511C>T p.R171W missense 0.00000826●●●●●●
129. 50962104 c.737C>G p.S246W missense 0.00000826●●●●●●
130. 50962104 c.737C>T p.S246L missense 0.00000826●●●●●●
131. 50962335 c.506C>T p.P169L missense 0.00000826●●●●●●
132. 50962258 c.583A>C p.T195P missense 0.00000825●●●●●●
133. 50962246 c.595G>A p.A199T missense 0.00000825●●●●●●
134. 50962113 c.728G>A p.R243Q missense 0.00000825●●●●●●
135. 50962114 c.727C>G p.R243G missense 0.00000825●●●●●●
136. 50962261 c.580T>A p.S194T missense 0.00000825●●●●●●
137. 50962239 c.602C>G p.A201G missense 0.00000825●●●●●●
138. 50962113 c.728G>T p.R243L missense 0.00000825●●●●●●
139. 50962240 c.601G>A p.A201T missense 0.00000825●●●●●●
140. 50962129 c.712A>G p.T238A missense 0.00000825●●●●●●
141. 50962158 c.683T>C p.I228T missense 0.00000824●●●●●●
142. 50962164 c.677T>C p.I226T missense 0.00000824●●●●●●
143. 50962170 c.671A>G p.H224R missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.