E20G (p.Glu20Gly) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E20G (p.Glu20Gly) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- gnomAD 14-61697924-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 14.60
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available