E31Q (p.Glu31Gln) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
E31Q (p.Glu31Gln) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- gnomAD 15-39934286-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.11
- CADD 25.20
- PolyPhen-2 0.79
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available