R93C (p.Arg93Cys) variant of MMUT (P22033)
R93C (p.Arg93Cys) 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; Like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R93C (p.Arg93Cys) variant details
- p.Arg93Cys
- rs746274670
- ClinGen CA3847146
- ClinVar RCV000669202
- ClinVar RCV001815368
- Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; Like
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.92
- CADD 29.30
- 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 Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)