G162W (p.Gly162Trp) variant of PCCB (P05166)
G162W (p.Gly162Trp) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PCCB-related disorder; Propionic acidemia; not provided. 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.
G162W (p.Gly162Trp) variant details
- p.Gly162Trp
- rs754752068
- ClinGen CA2631758
- ClinVar RCV000634872
- ClinVar RCV005870712
- Pathogenic/Likely pathogenic
- PCCB-related disorder; Propionic acidemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PCCB-related disorder; Propionic acidemia; not provided)
- 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)