G133R (p.Gly133Arg) variant of MMUT (P22033)
G133R (p.Gly133Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G133R (p.Gly133Arg) variant details
- p.Gly133Arg
- rs879253828
- ClinGen CA10575883
- ClinVar RCV000235708
- UniProt VAR 077211
- Pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.91
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)