R5G (p.Arg5Gly) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R5G (p.Arg5Gly) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. 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.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- 1000Genomes rs746773845
- ExAC rs746773845
- TOPMed rs746773845
- gnomAD rs746773845
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.89
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available