G4R (p.Gly4Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G4R (p.Gly4Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- gnomAD 15-39934205-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.10
- CADD 23.10
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available