L519P (p.Leu519Pro) variant of PCCB (P05166)
L519P (p.Leu519Pro) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L519P (p.Leu519Pro) variant details
- p.Leu519Pro
- rs202247822
- ClinGen CA343141
- ClinVar RCV000032129
- UniProt VAR 000281
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. (PMID 11749052)
- Cited in: Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin… (PMID 9683601)