G284R (p.Gly284Arg) variant of MMUT (P22033)
G284R (p.Gly284Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G284R (p.Gly284Arg) variant details
- p.Gly284Arg
- rs761477436
- ClinGen CA10575875
- ClinVar RCV000235506
- ClinVar RCV002517408
- Pathogenic
- not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- MutPred 0.91
- ClinVar: Pathogenic (not provided; Methylmalonic aciduria due to methylmalonyl-CoA mu)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Structural context available
- Cited in: Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel… (PMID 27167370)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)