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Details for VAPB:p.Val234Ile

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
57019259	58444203

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Val234Ile

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
5.567e-05	0.0	0.0	9.921e-05	0.0	0.0001386	8.79e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.961187	None

DBSNP ID

1 combination linked to VAPB:p.Val234Ile

1 disease linked to VAPB:p.Val234Ile

Amyotrophic lateral sclerosis

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