L392V (p.Leu392Val) variant of LPL (Lipoprotein lipase)
L392V (p.Leu392Val) 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 0.36 / 1. The record also includes population frequency data and published literature.
L392V (p.Leu392Val) variant details
- p.Leu392Val
- rs118204078
- ClinGen CA251888
- ClinVar RCV000001616
- UniProt VAR 004243
- Likely pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- MetaLR 0.39
- MetaSVM -0.22
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. (PMID 8135797)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)