P215L (p.Pro215Leu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
P215L (p.Pro215Leu) 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 record also includes structural context.
P215L (p.Pro215Leu) variant details
- p.Pro215Leu
- rs2503132758
- ClinGen CA389925572
- ClinVar RCV002468425
- Likely pathogenic
- Enchondromatosis
- Missense
- ClinVar: Likely pathogenic (Enchondromatosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available