E457K (p.Glu457Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E457K (p.Glu457Lys) 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.
E457K (p.Glu457Lys) variant details
- p.Glu457Lys
- rs2503149952
- ClinGen CA389927270
- ClinVar RCV002468430
- Likely pathogenic
- Maffucci syndrome
- Missense
- ClinVar: Likely pathogenic (Maffucci syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic