R5C (p.Arg5Cys) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R5C (p.Arg5Cys) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. 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.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- 1000Genomes rs746773845
- ExAC rs746773845
- TOPMed rs746773845
- gnomAD rs746773845
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.32
- MetaLR 0.19
- MetaSVM -0.72
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available