R197H (p.Arg197His) variant of LPL (Lipoprotein lipase)
R197H (p.Arg197His) 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; Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
R197H (p.Arg197His) variant details
- p.Arg197His
- rs372668179
- ClinGen CA4655476
- ClinVar RCV001249092
- ClinVar RCV001860433
- Pathogenic/Likely pathogenic
- not provided; Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperlipidemia, familial combined, LPL related; Hy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00034)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)