R44P (p.Arg44Pro) variant of PCCB (P05166)
R44P (p.Arg44Pro) in PCCB (P05166) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PA-2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
R44P (p.Arg44Pro) variant details
- p.Arg44Pro
- UniProt VAR 000271
- Pathogenic
- in PA-2
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.78
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Structural context available
- Cited in: Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin… (PMID 9683601)
- Cited in: Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253.… (PMID 10447268)