G186E (p.Gly186Glu) variant of LPL (Lipoprotein lipase)
G186E (p.Gly186Glu) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperlipoproteinemia, type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
G186E (p.Gly186Glu) variant details
- p.Gly186Glu
- rs2540105673
- ClinGen CA370468286
- ClinVar RCV003557373
- UniProt VAR 057921
- Likely pathogenic
- Hyperlipoproteinemia, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- MetaLR 0.79
- MetaSVM 0.56
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I; not provided)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for… (PMID 15877202)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)