Details for TBK1:p.Arg573His

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
6488955364495773
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TBK1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg573His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.629e-057.763e-059.033e-050.00.00.04.569e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging4.190077Disease causing
DBSNP ID NA
1 combination linked to TBK1:p.Arg573His OLI1699
1 disease linked to TBK1:p.Arg573His Amyotrophic lateral sclerosis
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