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Details for VCL:c.2046A>T, p.Leu682Phe

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
75863601	74103843

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2046A>T

PROTEIN CHANGE

p.Leu682Phe

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
4.374e-05	0.0	0.0	0.0	0.0	0.0	8.79e-05	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.373851	Polymorphism

DBSNP ID

1 combination linked to VCL:c.2046A>T, p.Leu682Phe

1 disease linked to VCL:c.2046A>T, p.Leu682Phe

Sudden infant death syndrome

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