R22L (p.Arg22Leu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R22L (p.Arg22Leu) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- TOPMed rs2034029457
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.09
- CADD 32.00
- PolyPhen-2 0.66
- SIFT 0.00
- Population evidence available
- Structural context available