C310Y (p.Cys310Tyr) variant of LPL (Lipoprotein lipase)
C310Y (p.Cys310Tyr) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperlipidemia, familial combined, LPL related. 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.
C310Y (p.Cys310Tyr) variant details
- p.Cys310Tyr
- rs1409123950
- ClinGen CA370469267
- ClinVar RCV001257912
- ClinVar RCV001537868
- Likely pathogenic
- Hyperlipidemia, familial combined, LPL related
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperlipidemia, familial combined, LPL related)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. (PMID 12204001)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)