S3N (p.Ser3Asn) variant of LPL (Lipoprotein lipase)
S3N (p.Ser3Asn) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related; Hyperl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- rs367592716
- ClinGen CA4655259
- ClinVar RCV002282815
- ClinVar RCV002373078
- Uncertain significance
- Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related; Hyperl
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- MetaLR 0.56
- MetaSVM 0.27
- CADD 24.00
- PolyPhen-2 0.28
- SIFT 0.31
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0012)
- Structural context available
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)