R512C (p.Arg512Cys) variant of PCCB (P05166)
R512C (p.Arg512Cys) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R512C (p.Arg512Cys) variant details
- p.Arg512Cys
- rs186710233
- ClinGen CA343140
- ClinVar RCV000032128
- ClinVar RCV001090671
- Pathogenic
- Inborn genetic diseases; not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. (PMID 11749052)
- Cited in: Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID 15059621)