W113R (p.Trp113Arg) variant of LPL (Lipoprotein lipase)
W113R (p.Trp113Arg) 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 Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
W113R (p.Trp113Arg) variant details
- p.Trp113Arg
- rs118204069
- ClinGen CA251878
- ClinVar RCV000001605
- ClinVar RCV001197456
- Pathogenic/Likely pathogenic
- Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hyperlipidemia, familial combined, LPL related; Hyperlipoprotein)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes. (PMID 1479292)
- Cited in: A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. (PMID 1598907)