R189H (p.Arg189His) variant of MMACHC (Q9Y4U1)
R189H (p.Arg189His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R189H (p.Arg189His) variant details
- p.Arg189His
- rs761221416
- ClinGen CA827793
- ClinVar RCV000477781
- ExAC rs761221416
- Pathogenic/Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.75
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the South Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)