G112D (p.Gly112Asp) variant of PCCB (P05166)
G112D (p.Gly112Asp) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G112D (p.Gly112Asp) variant details
- p.Gly112Asp
- rs202247818
- ClinGen CA343144
- cosmic curated COSV10724
- ClinVar RCV000032132
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Structural context available
- Cited in: Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PMID 12559849)
- Cited in: Propionic Acidemia. (PMID 22593918)