A2V (p.Ala2Val) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A2V (p.Ala2Val) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs2140892690
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.11
- MetaLR 0.20
- MetaSVM -0.88
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available