R189L (p.Arg189Leu) variant of MMACHC (Q9Y4U1)
R189L (p.Arg189Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R189L (p.Arg189Leu) variant details
- p.Arg189Leu
- rs761221416
- ClinGen CA340133480
- ClinVar RCV003068298
- Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.78
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.07
- ClinVar: Likely pathogenic (Cobalamin C disease)
- EBI: Likely pathogenic (in MAHCC)
- UniProt: Likely pathogenic (in MAHCC)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)