D40E (p.Asp40Glu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
D40E (p.Asp40Glu) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D40E (p.Asp40Glu) variant details
- p.Asp40Glu
- TOPMed rs2034030555
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.19
- MetaLR 0.16
- MetaSVM -0.94
- CADD 21.30
- PolyPhen-2 0.26
- SIFT 0.00
- Population evidence available
- Structural context available