R191P (p.Arg191Pro) variant of MMAB (Q96EY8)
R191P (p.Arg191Pro) 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 0.80 / 1. The record also includes published literature and structural context.
R191P (p.Arg191Pro) variant details
- p.Arg191Pro
- rs746219370
- ClinGen CA386636835
- ClinVar RCV003227567
- Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.96
- MetaSVM 1.09
- 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)