A7G (p.Ala7Gly) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A7G (p.Ala7Gly) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- gnomAD 15-39934215-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0856
- REVEL 0.03
- CADD 5.45
- PolyPhen-2 0.02
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available