C445Y (p.Cys445Tyr) variant of LPL (Lipoprotein lipase)
C445Y (p.Cys445Tyr) 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 0.54 / 1. The record also includes published literature.
C445Y (p.Cys445Tyr) variant details
- p.Cys445Tyr
- rs118204079
- ClinGen CA251890
- ClinVar RCV000001618
- UniProt VAR 057944
- Pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 0.98
- MetaLR 0.52
- MetaSVM 0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.45
- ClinVar: Pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Cited in: The acidic domain of the endothelial membrane protein GPIHBP1 stabilizes lipoprotein lipase activity by preventing… (PMID 26725083)
- Cited in: Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis. (PMID 30559189)