E269K (p.Glu269Lys) variant of LPL (Lipoprotein lipase)
E269K (p.Glu269Lys) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cardiovascular phenotype; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
E269K (p.Glu269Lys) variant details
- p.Glu269Lys
- rs761886494
- ClinGen CA4655540
- ClinVar RCV001377680
- ClinVar RCV001831346
- Pathogenic
- not provided; Cardiovascular phenotype; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- CADD 28.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Cardiovascular phenotype; Hyperlipoproteinemia, ty)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00039)
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)