G11R (p.Gly11Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G11R (p.Gly11Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- ExAC rs766830247
- TOPMed rs766830247
- gnomAD rs766830247
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.30
- MetaLR 0.19
- MetaSVM -0.86
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available