R410W (p.Arg410Trp) variant of PCCB (P05166)
R410W (p.Arg410Trp) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PCCB-related disorder; 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.
R410W (p.Arg410Trp) variant details
- p.Arg410Trp
- rs121964959
- ClinGen CA343136
- ClinVar RCV000012791
- ClinVar RCV004589508
- Pathogenic/Likely pathogenic
- PCCB-related disorder; not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.64
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PCCB-related disorder; not provided; Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. (PMID 10502773)
- Cited in: Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PMID 12559849)