C132R (p.Cys132Arg) variant of MMAB (Q96EY8)
C132R (p.Cys132Arg) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Methylmalonic aciduria, cblB type; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C132R (p.Cys132Arg) variant details
- p.Cys132Arg
- rs147457956
- ClinGen CA6778924
- cosmic curated COSV99904
- ClinVar RCV000824472
- Conflicting interpretations
- Inborn genetic diseases; Methylmalonic aciduria, cblB type; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.04
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Methylmalonic aciduria, cblB type; not)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- 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)