G6D (p.Gly6Asp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G6D (p.Gly6Asp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- gnomAD 14-61695821-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.08
- CADD 21.60
- PolyPhen-2 0.70
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available