C46G (p.Cys46Gly) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
C46G (p.Cys46Gly) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
C46G (p.Cys46Gly) variant details
- p.Cys46Gly
- gnomAD 15-39934331-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0555
- REVEL 0.01
- CADD 7.98
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available