G181S (p.Gly181Ser) variant of LPL (Lipoprotein lipase)
G181S (p.Gly181Ser) 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 not provided; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and published literature.
G181S (p.Gly181Ser) variant details
- p.Gly181Ser
- rs747009924
- ClinGen CA370468242
- ClinVar RCV001972355
- UniProt VAR 004216
- Pathogenic/Likely pathogenic
- not provided; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- MetaLR 0.94
- MetaSVM 1.07
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; 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: Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in… (PMID 8301230)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)