E39D (p.Glu39Asp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E39D (p.Glu39Asp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- gnomAD 14-61720463-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.31
- MetaLR 0.27
- MetaSVM -0.62
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available