C46F (p.Cys46Phe) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
C46F (p.Cys46Phe) 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.
C46F (p.Cys46Phe) variant details
- p.Cys46Phe
- gnomAD 15-39934332-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.02
- CADD 14.20
- PolyPhen-2 0.09
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available