E2E (p.Glu2Glu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E2E (p.Glu2Glu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- rs1566556739
- gnomAD 14-61695810-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 21.60
- Population evidence available
- Literature evidence available