D44Y (p.Asp44Tyr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
D44Y (p.Asp44Tyr) 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.
D44Y (p.Asp44Tyr) variant details
- p.Asp44Tyr
- TOPMed rs1355293664
- gnomAD rs1355293664
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.16
- MetaLR 0.08
- MetaSVM -1.00
- CADD 22.70
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available