R10C (p.Arg10Cys) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R10C (p.Arg10Cys) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- gnomAD 15-39934223-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.19
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available