N388K (p.Asn388Lys) variant of MMUT (P22033)
N388K (p.Asn388Lys) 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 methylmalonyl-CoA mutase deficiency; Methylmalonic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
N388K (p.Asn388Lys) variant details
- p.Asn388Lys
- rs879253840
- ClinGen CA10575869
- ClinVar RCV000236522
- ClinVar RCV005406950
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; Methylmalonic
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- MutPred 0.80
- ClinVar: Pathogenic/Likely 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)