R410Q (p.Arg410Gln) variant of PCCB (P05166)
R410Q (p.Arg410Gln) 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; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R410Q (p.Arg410Gln) variant details
- p.Arg410Gln
- rs778742647
- ClinGen CA2632108
- cosmic curated COSV52443
- ClinVar RCV000673426
- Pathogenic/Likely pathogenic
- PCCB-related disorder; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (PCCB-related disorder; 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: Propionic Acidemia. (PMID 22593918)