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Details for WNT10A:c.682T>A, p.Phe228Ile

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
219755011	218890289

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.682T>A

PROTEIN CHANGE

p.Phe228Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.006	0.0015	0.0115	0.0	0.0199	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01392	0.003721	0.01062	0.03493	0.0	0.004702	0.02125	0.01627	0.001668

ESP
AA	EA
0.007269	0.02431

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.929118	Disease causing

DBSNP ID

3 combinations linked to WNT10A:c.682T>A, p.Phe228Ile

OLI1243; OLI1244; OLI576

1 disease linked to WNT10A:c.682T>A, p.Phe228Ile

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