rs11591147
rs11591147 is a coding missense variant in PCSK9, producing the p.Arg46Leu (R46L) amino-acid substitution adjacent to a phosphorylation site near the N-terminus of the PCSK9 protein. The Leu46 variant makes PCSK9 more susceptible to proteolytic degradation, which is a loss-of-function effect that reduces PCSK9-mediated degradation of LDL receptors, lowering LDL cholesterol by roughly 10-15% and reducing cardiovascular disease risk. In this dataset it contributes to the coronary artery disease risk score alongside LPA and 9p21 variants.
Traits rs11591147 reads
Gene
Reference databases
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