L279V (p.Leu279Val) variant of LPL (Lipoprotein lipase)
L279V (p.Leu279Val) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyperlipoproteinemia, type I; Hyperlipidemia, familial combined, LPL related; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
L279V (p.Leu279Val) variant details
- p.Leu279Val
- rs371282890
- ClinGen CA4655546
- ClinVar RCV001060882
- ClinVar RCV001806006
- Pathogenic/Likely pathogenic
- Hyperlipoproteinemia, type I; Hyperlipidemia, familial combined, LPL related; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 22.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hyperlipoproteinemia, type I; Hyperlipidemia, familial combined,)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the East Asian population (allele frequency 0.0017)
- Cited in: Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. (PMID 12204001)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)