G237D (p.Gly237Asp) variant of LPL (Lipoprotein lipase)
G237D (p.Gly237Asp) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
G237D (p.Gly237Asp) variant details
- p.Gly237Asp
- rs571478179
- ClinGen CA173377547
- ClinVar RCV003557376
- ClinVar RCV005931448
- Likely pathogenic
- not provided; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 28.40
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Hyperlipoproteinemia, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)