Details for PCSK9:c.10G>A, p.Val4Ile

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
5550552055039847
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PCSK9
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_174936.3
CDNA CHANGE c.10G>A
PROTEIN CHANGE p.Val4Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.000140.00.00.00.0018290.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.706538None
DBSNP ID rs186669805
1 combination linked to PCSK9:c.10G>A, p.Val4Ile OLI818
1 disease linked to PCSK9:c.10G>A, p.Val4Ile NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
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