P43S (p.Pro43Ser) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P43S (p.Pro43Ser) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- gnomAD 15-39934322-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.03
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available