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Details for MAST4:c.4486G>A, p.Val1496Met

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
66459493	67163665

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4486G>A

PROTEIN CHANGE

p.Val1496Met

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
2.57e-05	0.0	0.0	0.0	0.0	0.0	4.778e-05	0.0001745	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.357707	Polymorphism

DBSNP ID

1 combination linked to MAST4:c.4486G>A, p.Val1496Met

1 disease linked to MAST4:c.4486G>A, p.Val1496Met

Juvenile myoclonic epilepsy

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