Details for PCSK9:c.1327G>A, p.Ala443Thr

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
5552385555058182
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PCSK9
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_174936.3
CDNA CHANGE c.1327G>A
PROTEIN CHANGE p.Ala443Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.02660.09610.00860.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0071940.097710.0040810.0026920.00076294.624e-050.00028440.002469.801e-05

ESP
AAEA
0.083750.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.03395Polymorphism
DBSNP ID rs28362263
1 combination linked to PCSK9:c.1327G>A, p.Ala443Thr OLI463
1 disease linked to PCSK9:c.1327G>A, p.Ala443Thr Hypobetalipoproteinemia
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