R17C (p.Arg17Cys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R17C (p.Arg17Cys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- TOPMed rs904387412
- gnomAD rs904387412
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.46
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available