R165W (p.Arg165Trp) variant of PCCB (P05166)
R165W (p.Arg165Trp) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R165W (p.Arg165Trp) variant details
- p.Arg165Trp
- rs879253815
- ClinGen CA10575810
- cosmic curated COSV52445
- ClinVar RCV000236206
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.99
- CADD 27.00
- ClinVar: Pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID 15059621)
- Cited in: Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. (PMID 15890657)