R42W (p.Arg42Trp) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R42W (p.Arg42Trp) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- gnomAD 15-39934319-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.37
- CADD 29.00
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available