A32V (p.Ala32Val) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A32V (p.Ala32Val) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- gnomAD 15-39934290-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.20
- CADD 25.20
- PolyPhen-2 0.27
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available