P399R (p.Pro399Arg) variant of PCCB (P05166)
P399R (p.Pro399Arg) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P399R (p.Pro399Arg) variant details
- p.Pro399Arg
- rs753037539
- ClinGen CA2632034
- ClinVar RCV002251221
- ExAC rs753037539
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)