C310R (p.Cys310Arg) variant of LPL (Lipoprotein lipase)
C310R (p.Cys310Arg) 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 0.88 / 1. The record also includes published literature.
C310R (p.Cys310Arg) variant details
- p.Cys310Arg
- rs886037774
- ClinGen CA10602402
- ClinVar RCV000258506
- Ensembl rs886037774
- Likely pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I)
- EBI: Likely pathogenic (in HLPP1)
- UniProt: Likely pathogenic (in HLPP1)
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)