R5H (p.Arg5His) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R5H (p.Arg5His) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- gnomAD 15-39934209-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.13
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available