R42L (p.Arg42Leu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R42L (p.Arg42Leu) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- gnomAD 15-39934320-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.23
- CADD 29.70
- PolyPhen-2 0.66
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available