D139N (p.Asp139Asn) variant of MMUT (P22033)
D139N (p.Asp139Asn) 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 0.92 / 1. The record also includes published literature and structural context.
D139N (p.Asp139Asn) variant details
- p.Asp139Asn
- rs879253829
- ClinGen CA10575882
- ClinVar RCV000236526
- UniProt VAR 077212
- Pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- MutPred 0.92
- ClinVar: Pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- 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)