EIF2S1 missense variants in ExAC

EIF2S1 gene summary
EIF2S1 variants in

The table below lists the EIF2S1 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. 67831497 c.13A>C p.S5R missense 0.00012392●●●●●●
2. 67849240 c.755G>A p.S252N missense 0.00006590●●●●●●
3. 67849242 c.757C>G p.Q253E missense 0.00006590●●●●●●
4. 67850136 c.927G>A p.M309I missense 0.00005843●●●●●●
5. 67841257 c.314C>G p.S105C missense 0.00005004●●●●●●
6. 67850149 c.940G>C p.E314Q missense 0.00004197●●●●●●
7. 67849200 c.715A>G p.T239A missense 0.00004121●●●●●●
8. 67849186 c.701G>A p.R234Q missense 0.00003299●●●●●●
9. 67843180 c.346G>T p.A116S missense 0.00002496●●●●●●
10. 67843207 c.373G>A p.E125K missense 0.00002480●●●●●●
11. 67849206 c.721A>G p.T241A missense 0.00002472●●●●●●
12. 67849185 c.700C>T p.R234W missense 0.00001650●●●●●●
13. 67848360 c.631G>T p.A211S missense 0.00001648●●●●●●
14. 67848399 c.670C>G p.P224A missense 0.00001648●●●●●●
15. 67849293 c.808A>C p.N270H missense 0.00001648●●●●●●
16. 67831603 c.119A>G p.N40S missense 0.00001647●●●●●●
17. 67831608 c.124A>G p.I42V missense 0.00001647●●●●●●
18. 67847477 c.575G>T p.R192L missense 0.00000839●●●●●●
19. 67847386 c.484A>G p.I162V missense 0.00000839●●●●●●
20. 67843172 c.338G>A p.R113H missense 0.00000838●●●●●●
21. 67847393 c.491A>G p.D164G missense 0.00000835●●●●●●
22. 67850126 c.917C>T p.A306V missense 0.00000832●●●●●●
23. 67831489 c.5C>G p.P2R missense 0.00000831●●●●●●
24. 67847409 c.507T>G p.N169K missense 0.00000831●●●●●●
25. 67841230 c.287T>C p.I96T missense 0.00000830●●●●●●
26. 67847419 c.517C>T p.R173W missense 0.00000830●●●●●●
27. 67850072 c.863G>A p.R288K missense 0.00000829●●●●●●
28. 67831704 c.220A>G p.I74V missense 0.00000825●●●●●●
29. 67831506 c.22T>G p.F8V missense 0.00000825●●●●●●
30. 67831563 c.79A>G p.I27V missense 0.00000824●●●●●●
31. 67848400 c.671C>T p.P224L missense 0.00000824●●●●●●
32. 67831692 c.208T>C p.C70R missense 0.00000824●●●●●●
33. 67849302 c.817A>T p.M273L missense 0.00000824●●●●●●
34. 67849219 c.734C>T p.T245I missense 0.00000824●●●●●●
35. 67843262 c.428A>G p.K143R missense 0.00000824●●●●●●
36. 67843283 c.449A>G p.Y150C missense 0.00000824●●●●●●
37. 67849248 c.763A>C p.M255L missense 0.00000824●●●●●●
38. 67843253 c.419A>G p.D140G missense 0.00000824●●●●●●
39. 67831646 c.162G>C p.R54S missense 0.00000824●●●●●●
40. 67843256 c.422A>T p.K141M 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.