R19Q (p.Arg19Gln) variant of MMAB (Q96EY8)
R19Q (p.Arg19Gln) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- rs36013132
- ClinGen CA347899
- ClinVar RCV000408901
- ClinVar RCV000589479
- Uncertain significance
- not provided; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- ESM-1b 0.50
- AlphaMissense 0.14
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Benign (in dbSNP:rs36013132)
- UniProt: Benign (in dbSNP:rs36013132)
- Structural context available
- Cited in: Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic… (PMID 12471062)
- Cited in: Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a… (PMID 12514191)