P279L (p.Pro279Leu) variant of PCCB (P05166)
P279L (p.Pro279Leu) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Propionic acidemia; PCCB-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P279L (p.Pro279Leu) variant details
- p.Pro279Leu
- rs780837200
- ClinGen CA2631888
- ClinVar RCV000321726
- ClinVar RCV002504151
- Pathogenic/Likely pathogenic
- not provided; Propionic acidemia; PCCB-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Propionic acidemia; PCCB-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)