Details for TBK1:p.Val421Leu

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
6487971864485938
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TBK1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Val421Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.331e-050.00.00.00.00019510.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.46475Polymorphism
DBSNP ID NA
1 combination linked to TBK1:p.Val421Leu OLI1718
1 disease linked to TBK1:p.Val421Leu Common variable immunodeficiency
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