A7P (p.Ala7Pro) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A7P (p.Ala7Pro) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- ExAC rs776846678
- TOPMed rs776846678
- gnomAD rs776846678
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -0.97
- CADD 14.80
- PolyPhen-2 0.14
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0013)
- Structural context available