R12W (p.Arg12Trp) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R12W (p.Arg12Trp) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R12W (p.Arg12Trp) variant details
- p.Arg12Trp
- gnomAD 15-39934229-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 0.22
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available