A137G (p.Ala137Gly) variant of MMUT (P22033)
A137G (p.Ala137Gly) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Methylmalonic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
A137G (p.Ala137Gly) variant details
- p.Ala137Gly
- rs941483851
- ClinGen CA138800018
- ClinVar RCV000489243
- ClinVar RCV005239086
- Likely pathogenic
- not provided; Methylmalonic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- MutPred 0.88
- ClinVar: Likely pathogenic (not provided; Methylmalonic acidemia)
- 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: Isolated Methylmalonic Acidemia. (PMID 20301409)