G245C (p.Gly245Cys) variant of PCCB (P05166)
G245C (p.Gly245Cys) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G245C (p.Gly245Cys) variant details
- p.Gly245Cys
- rs756414710
- ClinGen CA354643680
- ClinVar RCV003512615
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)