rs11591147
rs11591147 is a coding missense variant in PCSK9 at GRCh38 1:55039974, on a multiallelic G/A/T site. G>T produces p.Arg46Leu (R46L) and G>A produces p.Arg46His (R46H); only the G/T comparison is reviewed here. The Leu46 protein is more readily degraded, a loss of function that leaves more LDL receptors on liver cells and lowers LDL cholesterol. In the Global Lipids Genetics Consortium each T copy was linked to about 0.43 SD lower measured LDL cholesterol in European participants, with the same direction in African and Hispanic/Latino participants. The T allele has not been observed in East Asian reference data, so it yields no result there. T is protective and LDL-lowering, never risk-increasing.
Traits rs11591147 reads
Gene
Reference databases
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