A29S (p.Ala29Ser) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A29S (p.Ala29Ser) 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.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- gnomAD 15-39934280-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.17
- CADD 26.00
- PolyPhen-2 0.53
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available