R61P (p.Arg61Pro) variant of MMACHC (Q9Y4U1)
R61P (p.Arg61Pro) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cobalamin C disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R61P (p.Arg61Pro) variant details
- p.Arg61Pro
- rs201777449
- ClinGen CA340131703
- ClinVar RCV001059924
- ClinVar RCV002254949
- Pathogenic/Likely pathogenic
- Cobalamin C disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.45
- CADD 6.57
- PolyPhen-2 0.20
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Cobalamin C disease; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)