S692C (p.Ser692Cys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S692C (p.Ser692Cys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Enchondromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
S692C (p.Ser692Cys) variant details
- p.Ser692Cys
- rs2503156139
- ClinGen CA389929338
- ClinVar RCV002468429
- Likely pathogenic
- Enchondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.20
- CADD 25.60
- PolyPhen-2 0.39
- SIFT 0.02
- ClinVar: Likely pathogenic (Enchondromatosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)