S15Y (p.Ser15Tyr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S15Y (p.Ser15Tyr) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S15Y (p.Ser15Tyr) variant details
- p.Ser15Tyr
- gnomAD 14-61720390-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.44
- MetaLR 0.44
- MetaSVM -0.06
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available