G133* (p.Gly133Ter) variant of MMUT (P22033)
G133* (p.Gly133Ter) in MMUT (P22033) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MAMM. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G133* (p.Gly133Ter) variant details
- p.Gly133Ter
- rs879253828
- ClinGen CA364404811
- ClinVar RCV001264283
- ClinVar RCV003660880
- Pathogenic
- in MAMM
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.922
- MutPred 0.92
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)