T387I (p.Thr387Ile) variant of MMUT (P22033)
T387I (p.Thr387Ile) 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 0.81 / 1. The record also includes published literature and structural context.
T387I (p.Thr387Ile) variant details
- p.Thr387Ile
- rs1400022403
- ClinGen CA364398992
- ClinVar RCV003388859
- UniProt VAR 075387
- Pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- MutPred 0.81
- ClinVar: Pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Structural context available
- Cited in: Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. (PMID 22727635)
- Cited in: Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT)… (PMID 25125334)