G198D (p.Gly198Asp) variant of PCCB (P05166)
G198D (p.Gly198Asp) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G198D (p.Gly198Asp) variant details
- p.Gly198Asp
- rs762354873
- ClinGen CA2631790
- ClinVar RCV002281827
- UniProt VAR 000276
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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: Propionic Acidemia. (PMID 22593918)