R376C (p.Arg376Cys) variant of PCCB (P05166)
R376C (p.Arg376Cys) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R376C (p.Arg376Cys) variant details
- p.Arg376Cys
- rs200306164
- ClinGen CA83819667
- ClinVar RCV001993127
- TOPMed rs200306164
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)