R191Q (p.Arg191Gln) variant of MMAB (Q96EY8)
R191Q (p.Arg191Gln) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R191Q (p.Arg191Gln) variant details
- p.Arg191Gln
- rs746219370
- ClinGen CA347882
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99904
- Pathogenic
- Inborn genetic diseases; not provided; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.30
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Methylmalonic aciduria, c)
- EBI: Pathogenic (in MACB)
- UniProt: Pathogenic (in MACB)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)