E2A (p.Glu2Ala) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E2A (p.Glu2Ala) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- gnomAD 14-61695809-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.10
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.03
- Population evidence available
- Literature evidence available