E2V (p.Glu2Val) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E2V (p.Glu2Val) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- gnomAD 14-61695809-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.19
- CADD 22.40
- PolyPhen-2 0.35
- SIFT 0.01
- Population evidence available
- Literature evidence available