G245S (p.Gly245Ser) variant of PCCB (P05166)
G245S (p.Gly245Ser) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G245S (p.Gly245Ser) variant details
- p.Gly245Ser
- rs756414710
- ClinGen CA2631842
- ClinVar RCV000790500
- ExAC rs756414710
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)