D382E (p.Asp382Glu) variant of PCCB (P05166)
D382E (p.Asp382Glu) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 published literature and structural context.
D382E (p.Asp382Glu) variant details
- p.Asp382Glu
- rs2108237867
- ClinGen CA354648616
- ClinVar RCV001384626
- Ensembl rs2108237867
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)