G6C (p.Gly6Cys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G6C (p.Gly6Cys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD 14-61695820-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.15
- CADD 22.10
- PolyPhen-2 0.90
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available