D13E (p.Asp13Glu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
D13E (p.Asp13Glu) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
D13E (p.Asp13Glu) variant details
- p.Asp13Glu
- TOPMed rs902159029
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.00
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available