Q27R (p.Gln27Arg) variant of MMACHC (Q9Y4U1)
Q27R (p.Gln27Arg) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- rs546099787
- ClinGen CA827620
- ClinVar RCV000667730
- UniProt VAR 024770
- Pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.57
- CADD 25.70
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Pathogenic (Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PMID 16311595)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)