G35C (p.Gly35Cys) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G35C (p.Gly35Cys) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G35C (p.Gly35Cys) variant details
- p.Gly35Cys
- gnomAD 15-39934298-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.34
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available