R108C (p.Arg108Cys) variant of MMUT (P22033)
R108C (p.Arg108Cys) 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 complete methylmalonyl-CoA mutase deficiency; not. 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.
R108C (p.Arg108Cys) variant details
- p.Arg108Cys
- rs121918257
- ClinGen CA249732
- ClinVar RCV000001964
- ClinVar RCV000203340
- Pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.96
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)
- Cited in: Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. (PMID 26615597)