G255S (p.Gly255Ser) variant of PCCB (P05166)
G255S (p.Gly255Ser) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G255S (p.Gly255Ser) variant details
- p.Gly255Ser
- rs1553778909
- ClinGen CA354643739
- ClinVar RCV000673510
- Ensembl rs1553778909
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.22
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)