H122L (p.His122Leu) variant of MMACHC (Q9Y4U1)
H122L (p.His122Leu) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Cobalamin C disease. The record also includes structural context.
H122L (p.His122Leu) variant details
- p.His122Leu
- TOPMed rs1403450697
- Pathogenic
- Cobalamin C disease
- Missense
- ClinVar: Pathogenic (Cobalamin C disease)
- UniProt: Pathogenic (in MAHCC)
- Structural context available