K331E (p.Lys331Glu) variant of LPL (Lipoprotein lipase)
K331E (p.Lys331Glu) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Lipase deficiency, combined; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature.
K331E (p.Lys331Glu) variant details
- p.Lys331Glu
- rs2069982771
- ClinGen CA370469409
- ClinVar RCV001332300
- ClinVar RCV003236892
- Pathogenic/Likely pathogenic
- not provided; Lipase deficiency, combined; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- AlphaMissense 0.68
- MetaLR 0.62
- MetaSVM 0.12
- PolyPhen-2 0.06
- SIFT 0.02
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (not provided; Lipase deficiency, combined; Hyperlipoproteinemia,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)