A36V (p.Ala36Val) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A36V (p.Ala36Val) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- ExAC rs773452712
- gnomAD rs773452712
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.05
- CADD 18.70
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available