R189C (p.Arg189Cys) variant of MMACHC (Q9Y4U1)
R189C (p.Arg189Cys) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R189C (p.Arg189Cys) variant details
- p.Arg189Cys
- rs200895671
- ClinGen CA827792
- cosmic curated COSV53113
- ClinVar RCV001378413
- Pathogenic/Likely pathogenic
- not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.79
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)