Details for PKP2:c.1759G>A, p.Val587Ile

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
3297702632824092
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PKP2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004572.3
CDNA CHANGE c.1759G>A
PROTEIN CHANGE p.Val587Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00290.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0024520.00086120.0025150.0096270.00.00013970.0035630.0016310.0

ESP
AAEA
0.00045390.004651
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.148255Polymorphism
DBSNP ID rs146102241
1 combination linked to PKP2:c.1759G>A, p.Val587Ile OLI231
1 disease linked to PKP2:c.1759G>A, p.Val587Ile Hypertrophic cardiomyopathy
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