G11V (p.Gly11Val) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G11V (p.Gly11Val) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 15-39934227-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.42
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available