G5C (p.Gly5Cys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G5C (p.Gly5Cys) 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, published literature, and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- gnomAD 14-61695817-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.17
- CADD 20.80
- PolyPhen-2 0.59
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available