R191G (p.Arg191Gly) variant of MMAB (Q96EY8)
R191G (p.Arg191Gly) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R191G (p.Arg191Gly) variant details
- p.Arg191Gly
- rs376128990
- ClinGen CA386636840
- ClinVar RCV003482196
- Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Likely pathogenic (in MACB)
- UniProt: Likely pathogenic (in MACB)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)