G11S (p.Gly11Ser) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G11S (p.Gly11Ser) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- ExAC rs766830247
- TOPMed rs766830247
- gnomAD rs766830247
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- MetaLR 0.18
- MetaSVM -0.91
- CADD 18.60
- PolyPhen-2 0.14
- SIFT 0.39
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available