G162R (p.Gly162Arg) variant of PCCB (P05166)
G162R (p.Gly162Arg) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G162R (p.Gly162Arg) variant details
- p.Gly162Arg
- rs754752068
- ExAC rs754752068
- TOPMed rs754752068
- gnomAD rs754752068
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)