C46Y (p.Cys46Tyr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
C46Y (p.Cys46Tyr) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
C46Y (p.Cys46Tyr) variant details
- p.Cys46Tyr
- ExAC rs764935060
- gnomAD rs764935060
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.96
- CADD 13.30
- PolyPhen-2 0.09
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available