R161G (p.Arg161Gly) variant of MMACHC (Q9Y4U1)
R161G (p.Arg161Gly) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R161G (p.Arg161Gly) variant details
- p.Arg161Gly
- rs370596113
- ClinGen CA340133167
- ClinVar RCV001004154
- ClinVar RCV004792608
- Pathogenic/Likely pathogenic
- not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.94
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PMID 16311595)
- Cited in: Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and… (PMID 25809485)