R132L (p.Arg132Leu) variant of MMACHC (Q9Y4U1)
R132L (p.Arg132Leu) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cobalamin C disease. The record also includes structural context.
R132L (p.Arg132Leu) variant details
- p.Arg132Leu
- ESP rs369335868
- ExAC rs369335868
- TOPMed rs369335868
- gnomAD rs369335868
- Likely pathogenic
- Cobalamin C disease
- Missense
- ClinVar: Likely pathogenic (Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available