G112S (p.Gly112Ser) variant of PCCB (P05166)
G112S (p.Gly112Ser) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G112S (p.Gly112Ser) variant details
- p.Gly112Ser
- rs1941676220
- ClinGen CA354738697
- ClinVar RCV001969147
- ClinVar RCV005406241
- Conflicting interpretations
- not specified; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Propionic acidemia)
- EBI: Likely pathogenic (in PA-2)
- UniProt: Likely pathogenic (in PA-2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)