A45P (p.Ala45Pro) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A45P (p.Ala45Pro) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A45P (p.Ala45Pro) variant details
- p.Ala45Pro
- gnomAD 15-39934328-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.11
- CADD 19.10
- PolyPhen-2 0.41
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available