D277N (p.Asp277Asn) variant of LPL (Lipoprotein lipase)
D277N (p.Asp277Asn) 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 Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related; Hyperl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and published literature.
D277N (p.Asp277Asn) variant details
- p.Asp277Asn
- rs118204068
- ClinGen CA251877
- ClinVar RCV000001604
- ClinVar RCV001059212
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related; Hyperl
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 24.40
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein… (PMID 1619366)
- Cited in: A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients… (PMID 1639392)