H268Y (p.His268Tyr) variant of LPL (Lipoprotein lipase)
H268Y (p.His268Tyr) 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; Hyperlipidemia, familial combined, LPL related. The record also includes published literature.
H268Y (p.His268Tyr) variant details
- p.His268Tyr
- rs2540107050
- ClinVar RCV004587947
- ClinVar RCV005040701
- Likely pathogenic
- Hyperlipoproteinemia, type I; Hyperlipidemia, familial combined, LPL related
- Missense
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I; Hyperlipidemia, familial combined,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)