R631H (p.Arg631His) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R631H (p.Arg631His) 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 0.15 / 1. The record also includes population frequency data.
R631H (p.Arg631His) variant details
- p.Arg631His
- rs199752292
- ClinGen CA7216023
- cosmic curated COSV60188
- ClinVar RCV002468427
- Likely pathogenic
- Enchondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.10
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Likely pathogenic (Enchondromatosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:PJL population (allele frequency 0.0052)