R629G (p.Arg629Gly) variant of MMUT (P22033)
R629G (p.Arg629Gly) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic acidemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R629G (p.Arg629Gly) variant details
- p.Arg629Gly
- rs796052004
- ClinGen CA312771
- ClinVar RCV000186051
- ClinVar RCV004700564
- Pathogenic
- Methylmalonic acidemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic (Methylmalonic acidemia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)