E2G (p.Glu2Gly) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E2G (p.Glu2Gly) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD 14-61695809-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.14
- CADD 22.70
- PolyPhen-2 0.11
- SIFT 0.02
- Population evidence available
- Literature evidence available