A7D (p.Ala7Asp) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A7D (p.Ala7Asp) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- gnomAD 15-39934215-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.05
- CADD 8.12
- PolyPhen-2 0.07
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available