D13Y (p.Asp13Tyr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
D13Y (p.Asp13Tyr) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D13Y (p.Asp13Tyr) variant details
- p.Asp13Tyr
- TOPMed rs1418526168
- gnomAD rs1418526168
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -0.96
- CADD 24.50
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available