A7V (p.Ala7Val) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A7V (p.Ala7Val) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- cosmic curated COSV55464
- TOPMed rs913851324
- gnomAD rs913851324
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.03
- MetaLR 0.15
- MetaSVM -1.02
- CADD 8.37
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available