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Details for IL10RA:p.Pro30Leu

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
117859118	117988403

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Pro30Leu

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
7.158e-05	0.0	0.0	0.0	0.0009242	0.0	8.791e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.969752	Polymorphism

DBSNP ID

1 combination linked to IL10RA:p.Pro30Leu

1 disease linked to IL10RA:p.Pro30Leu

Common variable immunodeficiency

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