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Details for TLE4:c.2254G>A, p.Val752Met

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
82339991	79725076

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2254G>A

PROTEIN CHANGE

p.Val752Met

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
4.408e-05	0.0	5.791e-05	0.0	0.0003886	0.0	1.766e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.679906	Polymorphism

DBSNP ID

1 combination linked to TLE4:c.2254G>A, p.Val752Met

1 disease linked to TLE4:c.2254G>A, p.Val752Met

Kallmann syndrome

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