E20D (p.Glu20Asp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E20D (p.Glu20Asp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- gnomAD 14-61697925-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 11.80
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available