D382G (p.Asp382Gly) variant of PCCB (P05166)
D382G (p.Asp382Gly) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
D382G (p.Asp382Gly) variant details
- p.Asp382Gly
- rs201138170
- ClinGen CA83819687
- ClinVar RCV002027200
- TOPMed rs201138170
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.09
- CADD 29.20
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)