H63Y (p.His63Tyr) variant of HFE (Q30201)
H63Y (p.His63Tyr) in HFE (Q30201) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HFE1. The record also includes structural context.
H63Y (p.His63Tyr) variant details
- p.His63Tyr
- 1000Genomes rs1799945
- ESP rs1799945
- ExAC rs1799945
- TOPMed rs1799945
- Pathogenic
- in HFE1
- Missense
- EBI: Pathogenic (in HFE1)
- UniProt: Pathogenic (in HFE1)
- Structural context available