R161Q (p.Arg161Gln) variant of MMACHC (Q9Y4U1)
R161Q (p.Arg161Gln) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R161Q (p.Arg161Gln) variant details
- p.Arg161Gln
- rs121918243
- ClinGen CA223191
- cosmic curated COSV10501
- ClinVar RCV000001490
- Pathogenic
- Inborn genetic diseases; not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.96
- AlphaMissense 0.76
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). (PMID 11320193)
- Cited in: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PMID 16311595)