S34C (p.Ser34Cys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S34C (p.Ser34Cys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S34C (p.Ser34Cys) variant details
- p.Ser34Cys
- gnomAD rs1249408665
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.28
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the 1KG:CHS population (allele frequency 0.015)
- Structural context available