R12Q (p.Arg12Gln) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R12Q (p.Arg12Gln) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R12Q (p.Arg12Gln) variant details
- p.Arg12Gln
- gnomAD rs1166947460
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -1.04
- CADD 21.60
- PolyPhen-2 0.02
- SIFT 0.64
- Population evidence available
- Structural context available