D183N (p.Asp183Asn) variant of LPL (Lipoprotein lipase)
D183N (p.Asp183Asn) 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; Hyperlipoproteinemia, type I; Hyperlipidemia, familial combined, L. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and published literature.
D183N (p.Asp183Asn) variant details
- p.Asp183Asn
- rs781614031
- ClinGen CA370468264
- NCI-TCGA Cosmic COSV6093
- ClinVar RCV001377679
- Pathogenic/Likely pathogenic
- not provided; Hyperlipoproteinemia, type I; Hyperlipidemia, familial combined, L
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- MetaLR 0.97
- MetaSVM 1.07
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperlipoproteinemia, type I; Hyperlipidemia, fami)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Cited in: Human lipoprotein lipase. Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241. (PMID 1371284)
- Cited in: Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic… (PMID 1730727)