S28Y (p.Ser28Tyr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S28Y (p.Ser28Tyr) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S28Y (p.Ser28Tyr) variant details
- p.Ser28Tyr
- cosmic curated COSV60188
- ExAC rs779897997
- TOPMed rs779897997
- gnomAD rs779897997
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.06
- CADD 25.30
- PolyPhen-2 0.46
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00045)
- Structural context available