A7E (p.Ala7Glu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A7E (p.Ala7Glu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- gnomAD 14-61695824-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.06
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available