Y110C (p.Tyr110Cys) variant of MMUT (P22033)
Y110C (p.Tyr110Cys) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.88 / 1. The record also includes published literature and structural context.
Y110C (p.Tyr110Cys) variant details
- p.Tyr110Cys
- rs796052005
- ClinGen CA312775
- ClinVar RCV000186053
- ClinVar RCV001027998
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- MutPred 0.88
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Structural context available
- Cited in: Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. (PMID 26615597)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)