E17Q (p.Glu17Gln) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
E17Q (p.Glu17Gln) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- gnomAD 15-39934244-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.18
- CADD 25.20
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available