G11C (p.Gly11Cys) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G11C (p.Gly11Cys) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- gnomAD 15-39934226-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.29
- CADD 24.50
- PolyPhen-2 0.79
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available