G437S (p.Gly437Ser) variant of PCCB (P05166)
G437S (p.Gly437Ser) 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; PCCB-related disorder. 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.
G437S (p.Gly437Ser) variant details
- p.Gly437Ser
- rs1349202366
- ClinGen CA354649286
- ClinVar RCV001037425
- ClinVar RCV003413821
- Pathogenic/Likely pathogenic
- Propionic acidemia; PCCB-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.06
- CADD 29.50
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia; PCCB-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)