R165Q (p.Arg165Gln) variant of PCCB (P05166)
R165Q (p.Arg165Gln) 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R165Q (p.Arg165Gln) variant details
- p.Arg165Gln
- rs1304714042
- ClinGen CA354739684
- ClinVar RCV000666130
- UniProt VAR 023851
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.99
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. (PMID 11749052)
- Cited in: Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PMID 12559849)