E2D (p.Glu2Asp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E2D (p.Glu2Asp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 14-61695810-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.07
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Literature evidence available