A45S (p.Ala45Ser) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A45S (p.Ala45Ser) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- gnomAD 15-39934328-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.08
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available