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Details for CD8A:p.Arg174Gln

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
87015677	86788554

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg174Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.197e-05	0.0	0.0	0.0	0.0001089	0.0	8.811e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.029653	Polymorphism

DBSNP ID

1 combination linked to CD8A:p.Arg174Gln

1 disease linked to CD8A:p.Arg174Gln

Common variable immunodeficiency

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