G436R (p.Gly436Arg) variant of LPL (Lipoprotein lipase)
G436R (p.Gly436Arg) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperlipidemia, familial combined, LPL related. 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.
G436R (p.Gly436Arg) variant details
- p.Gly436Arg
- rs587777909
- ClinGen CA271189
- ClinVar RCV000145429
- TOPMed rs587777909
- Likely pathogenic
- Hyperlipidemia, familial combined, LPL related
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- MetaLR 0.85
- MetaSVM 0.81
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperlipidemia, familial combined, LPL related)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)