R22Q (p.Arg22Gln) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R22Q (p.Arg22Gln) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- gnomAD 15-39934260-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.13
- CADD 24.20
- PolyPhen-2 0.06
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available