Y19H (p.Tyr19His) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Y19H (p.Tyr19His) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Y19H (p.Tyr19His) variant details
- p.Tyr19His
- gnomAD 15-39934250-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.19
- CADD 26.10
- PolyPhen-2 0.93
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available