S286G (p.Ser286Gly) variant of LPL (Lipoprotein lipase)
S286G (p.Ser286Gly) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
S286G (p.Ser286Gly) variant details
- p.Ser286Gly
- rs2069980707
- ClinGen CA370469099
- ClinVar RCV003557378
- UniProt VAR 004237
- Likely pathogenic
- not provided; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Likely pathogenic (not provided; Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)
- Cited in: Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous… (PMID 10787434)