G4A (p.Gly4Ala) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G4A (p.Gly4Ala) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G4A (p.Gly4Ala) variant details
- p.Gly4Ala
- rs780175001
- ClinGen CA7473358
- ClinVar RCV001955336
- 1000Genomes rs780175001
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.04
- MetaLR 0.16
- MetaSVM -0.94
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available