A654V (p.Ala654Val) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A654V (p.Ala654Val) 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 Maffucci syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
A654V (p.Ala654Val) variant details
- p.Ala654Val
- rs2044704486
- ClinGen CA389929044
- ClinVar RCV002468428
- Ensembl rs2044704486
- Likely pathogenic
- Maffucci syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.14
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.47
- ClinVar: Likely pathogenic (Maffucci syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)