S18R (p.Ser18Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
S18R (p.Ser18Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S18R (p.Ser18Arg) variant details
- p.Ser18Arg
- gnomAD 15-39934249-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.19
- CADD 27.70
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available