A7S (p.Ala7Ser) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A7S (p.Ala7Ser) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- ExAC rs776846678
- TOPMed rs776846678
- gnomAD rs776846678
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.04
- MetaLR 0.13
- MetaSVM -1.04
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available