A2S (p.Ala2Ser) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A2S (p.Ala2Ser) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 15-39934199-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.12
- CADD 22.10
- PolyPhen-2 0.12
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available