T45N (p.Thr45Asn) variant of LPL (Lipoprotein lipase)
T45N (p.Thr45Asn) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperlipoproteinemia, type I; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
T45N (p.Thr45Asn) variant details
- p.Thr45Asn
- rs143944126
- ClinGen CA4655323
- ClinVar RCV001159217
- ClinVar RCV002249741
- Uncertain significance
- Hyperlipoproteinemia, type I; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 23.70
- PolyPhen-2 0.50
- SIFT 0.24
- ClinVar: Uncertain significance (Hyperlipoproteinemia, type I; not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)