D36N (p.Asp36Asn) variant of LPL (Lipoprotein lipase)
D36N (p.Asp36Asn) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign; other in the context of Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related; Hyperl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- rs1801177
- ClinGen CA251889
- ClinVar RCV000001617
- ClinVar RCV000157298
- Benign/Likely benign; other
- Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related; Hyperl
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 19.60
- PolyPhen-2 0.07
- SIFT 0.17
- ClinVar: Benign/Likely benign; other (Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SINDHI population (allele frequency 0.091)
- Structural context available
- Cited in: Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study. (PMID 10364086)
- Cited in: Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins. (PMID 10517255)