G161R (p.Gly161Arg) variant of MMUT (P22033)
G161R (p.Gly161Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency. 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.
G161R (p.Gly161Arg) variant details
- p.Gly161Arg
- rs2127420039
- ClinGen CA364404639
- ClinVar RCV001386691
- UniProt VAR 077214
- Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias. (PMID 19588269)
- Cited in: Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel… (PMID 27167370)