G169E (p.Gly169Glu) variant of LPL (Lipoprotein lipase)
G169E (p.Gly169Glu) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and published literature.
G169E (p.Gly169Glu) variant details
- p.Gly169Glu
- rs118204063
- ClinGen CA251871
- ClinVar RCV000001596
- UniProt VAR 004215
- Pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- MetaLR 0.98
- MetaSVM 1.07
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Population evidence available
- Cited in: Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. (PMID 2010533)
- Cited in: The mutation Gly142-->Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. (PMID 8567671)