G245D (p.Gly245Asp) variant of PCCB (P05166)
G245D (p.Gly245Asp) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of PCCB-related disorder; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G245D (p.Gly245Asp) variant details
- p.Gly245Asp
- rs778242891
- ClinGen CA2631843
- ClinVar RCV001965438
- ClinVar RCV003401934
- Conflicting interpretations
- PCCB-related disorder; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (PCCB-related disorder; Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)