F391S (p.Phe391Ser) variant of PCCB (P05166)
F391S (p.Phe391Ser) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
F391S (p.Phe391Ser) variant details
- p.Phe391Ser
- rs1189355322
- ClinGen CA354648766
- ClinVar RCV002646825
- TOPMed rs1189355322
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)