V96L (p.Val96Leu) variant of LPL (Lipoprotein lipase)
V96L (p.Val96Leu) 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; Cardiovascular phenotype; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V96L (p.Val96Leu) variant details
- p.Val96Leu
- rs373088068
- ClinGen CA4655374
- ClinVar RCV001699858
- ClinVar RCV005660151
- Likely pathogenic
- not provided; Cardiovascular phenotype; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Cardiovascular phenotype; Hyperlipoproteinemia, ty)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the Non-Finnish European population (allele frequency 0.00024)
- Structural context available
- Cited in: A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro… (PMID 7912254)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)