G4V (p.Gly4Val) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G4V (p.Gly4Val) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- 1000Genomes rs780175001
- ExAC rs780175001
- TOPMed rs780175001
- gnomAD rs780175001
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.16
- MetaLR 0.22
- MetaSVM -0.71
- CADD 23.20
- PolyPhen-2 0.35
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available