G9V (p.Gly9Val) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G9V (p.Gly9Val) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- ExAC rs773331885
- gnomAD rs773331885
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.12
- MetaLR 0.20
- MetaSVM -0.93
- CADD 18.60
- PolyPhen-2 0.14
- SIFT 0.14
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available