E14D (p.Glu14Asp) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
E14D (p.Glu14Asp) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- gnomAD 15-39934237-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.05
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.26
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available