C302R (p.Cys302Arg) variant of LPL (Lipoprotein lipase)
C302R (p.Cys302Arg) 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 0.91 / 1. The record also includes published literature.
C302R (p.Cys302Arg) variant details
- p.Cys302Arg
- rs1064797075
- ClinGen CA16621522
- ClinVar RCV000487457
- Ensembl rs1064797075
- Likely pathogenic
- Hyperlipidemia, familial combined, LPL related
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Hyperlipidemia, familial combined, LPL related)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)