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Details for STXBP2:c.1459G>A, p.Val487Met

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7712054	7647168

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1459G>A

PROTEIN CHANGE

p.Val487Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0015	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004241	0.005132	0.0002326	0.0	0.0005567	0.0	3.714e-05	0.0	9.84e-05

ESP
AA	EA
0.007976	0.000117

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.143566	Polymorphism

DBSNP ID

1 combination linked to STXBP2:c.1459G>A, p.Val487Met

1 disease linked to STXBP2:c.1459G>A, p.Val487Met

Familial hemophagocytic lymphohistiocytosis

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