R5L (p.Arg5Leu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R5L (p.Arg5Leu) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 15-39934209-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.27
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available