Potentially consequential variant alleles in PCSK1.

The R80Q (rs1799904) variant that differed from the human reference genome and was predicted to have a potentially consequential effect on the transcript was selected from the dbSNP 137, 1000 Genomes, NHLBI, and NIEHS public datasets. Pos: genomic position in GRCh37; ID: dbSNP 137 rs ID; REF: reference allele; ALT: alternate allele (variant); Rank: 3 splice_donor_variant, 12 missense_variant; cDNA: position and consequence of variant in cDNA of canonical NM_000439.4 transcript; Protein: position and consequence of variant in NP_000430.3 protein; Effect: computational prediction of effect on protein structure or function (“S” predicted deleterious by SIFT, “P” or “p” predicted probably or possibly damaging by PolyPhen, “C”, predicted deleterious by Condel from a consensus of SIFT and PolyPhen, “-” no prediction); MAF: minor allele frequency across all populations; Samples: total number of individuals genotyped; Het: number of individuals heterozygous for the variant allele; Hom: number of individuals homozygous for the variant allele. Known, common variants are listed in italics, and the rare novel variant is shown in bold.