E17D (p.Glu17Asp) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
E17D (p.Glu17Asp) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- gnomAD 15-39934246-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.06
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available