C266Y (p.Cys266Tyr) variant of LPL (Lipoprotein lipase)
C266Y (p.Cys266Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature.
C266Y (p.Cys266Tyr) variant details
- p.Cys266Tyr
- rs1554517725
- ClinGen CA370468976
- ClinVar RCV000625872
- Ensembl rs1554517725
- Likely pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I)
- EBI: Likely pathogenic (in HLPP1)
- UniProt: Likely pathogenic (in HLPP1)
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)