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Details for TPO:p.Ala489Thr

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
1488494	1484722

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala489Thr

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
3.581e-05	0.0	0.0002313	0.0	0.0	0.0	8.797e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.056207	Disease causing

DBSNP ID

1 combination linked to TPO:p.Ala489Thr

1 disease linked to TPO:p.Ala489Thr

Congenital hypothyroidism

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