Details for SARS2:c.136G>A, p.Glu46Lys

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
3942124138930601
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SARS2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_017827.3
CDNA CHANGE c.136G>A
PROTEIN CHANGE p.Glu46Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00019890.05.782e-050.00.00.00.00020230.00016290.0007839

ESP
AAEA
0.0002270.0003488
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.418804Polymorphism
DBSNP ID rs142446687
1 combination linked to SARS2:c.136G>A, p.Glu46Lys OLI005
1 disease linked to SARS2:c.136G>A, p.Glu46Lys Pulmonary arterial hypertension associated with congenital heart disease
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