G215E (p.Gly215Glu) variant of LPL (Lipoprotein lipase)
G215E (p.Gly215Glu) 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 LPL-related disorder; Cardiovascular phenotype; Hyperlipidemia, familial combine. 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.
G215E (p.Gly215Glu) variant details
- p.Gly215Glu
- rs118204057
- ClinGen CA251861
- ClinVar RCV000001586
- ClinVar RCV000521241
- Pathogenic/Likely pathogenic
- LPL-related disorder; Cardiovascular phenotype; Hyperlipidemia, familial combine
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.26
- ClinVar: Pathogenic/Likely pathogenic (LPL-related disorder; Cardiovascular phenotype; Hyperlipidemia,)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)
- Cited in: Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL… (PMID 11334614)