R116Q (p.Arg116Gln) variant of LPL (Lipoprotein lipase)
R116Q (p.Arg116Gln) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R116Q (p.Arg116Gln) variant details
- p.Arg116Gln
- rs775728208
- ClinGen CA4655387
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV001580615
- Likely pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 24.80
- PolyPhen-2 0.91
- SIFT 0.09
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)