S15F (p.Ser15Phe) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S15F (p.Ser15Phe) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S15F (p.Ser15Phe) variant details
- p.Ser15Phe
- ESP rs374224409
- ExAC rs374224409
- TOPMed rs374224409
- gnomAD rs374224409
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.46
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)
- Structural context available