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Details for TIRAP:p.Glu132Lys

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
126162698	126292803

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Glu132Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0	0.0	0.0079	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003181	0.0	8.722e-05	0.0	0.004043	0.0	8.896e-06	0.0	3.286e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.650655	Polymorphism

DBSNP ID

1 combination linked to TIRAP:p.Glu132Lys

1 disease linked to TIRAP:p.Glu132Lys

Common variable immunodeficiency

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