C243S (p.Cys243Ser) variant of LPL (Lipoprotein lipase)
C243S (p.Cys243Ser) 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 0.66 / 1. The record also includes population frequency data and published literature.
C243S (p.Cys243Ser) variant details
- p.Cys243Ser
- rs2069963510
- UniProt VAR 004232
- Ensembl rs2069963510
- Likely pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 27.90
- 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 Middle Eastern population (allele frequency 0.00017)
- Cited in: Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic… (PMID 1730727)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)