D44E (p.Asp44Glu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
D44E (p.Asp44Glu) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- ExAC rs761154197
- TOPMed rs761154197
- gnomAD rs761154197
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.00
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available