Details for MYL2:p.Ala13Thr

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
111356964110919160
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MYL2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ala13Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0003660.05.784e-050.0054620.00.00.00023740.00097756.535e-05

ESP
AAEA
0.00.0006977
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.582847Disease causing
DBSNP ID rs104894363
1 combination linked to MYL2:p.Ala13Thr OLI672
1 disease linked to MYL2:p.Ala13Thr Hypertrophic cardiomyopathy
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