Y34C (p.Tyr34Cys) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Y34C (p.Tyr34Cys) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y34C (p.Tyr34Cys) variant details
- p.Tyr34Cys
- gnomAD 15-39934296-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.63
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available