R5S (p.Arg5Ser) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R5S (p.Arg5Ser) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- gnomAD 15-39934208-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.12
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available