G668R (p.Gly668Arg) variant of PCCA (P05165)
G668R (p.Gly668Arg) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PCCA-related disorder; not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G668R (p.Gly668Arg) variant details
- p.Gly668Arg
- rs771438170
- UniProt VAR 009101
- ExAC rs771438170
- TOPMed rs771438170
- Pathogenic/Likely pathogenic
- PCCA-related disorder; not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PCCA-related disorder; not provided; Propionic acidemia)
- EBI: Pathogenic (in PA-1)
- UniProt: Pathogenic (in PA-1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. (PMID 10329019)
- Cited in: Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel… (PMID 10101253)