P234L (p.Pro234Leu) variant of LPL (Lipoprotein lipase)
P234L (p.Pro234Leu) 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 Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related; Hyperl. 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.
P234L (p.Pro234Leu) variant details
- p.Pro234Leu
- rs118204060
- ClinGen CA251865
- ClinVar RCV000001591
- ClinVar RCV001253353
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related; Hyperl
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Cited in: Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene. (PMID 11893776)
- Cited in: Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population… (PMID 1511985)