L279R (p.Leu279Arg) variant of LPL (Lipoprotein lipase)
L279R (p.Leu279Arg) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hyperlipoproteinemia, type I; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
L279R (p.Leu279Arg) variant details
- p.Leu279Arg
- rs35414700
- ClinGen CA173378278
- ClinVar RCV001055591
- ClinVar RCV001809969
- Pathogenic
- not provided; Hyperlipoproteinemia, type I; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hyperlipoproteinemia, type I; Cardiovascular pheno)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the East Asian population (allele frequency 0.00039)
- Cited in: Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. (PMID 12204001)
- Cited in: High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible… (PMID 8077845)