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Details for TARDBP:p.Ala321Val

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11082428	11022371

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala321Val

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.908792	Disease causing

DBSNP ID

1 combination linked to TARDBP:p.Ala321Val

1 disease linked to TARDBP:p.Ala321Val

Amyotrophic lateral sclerosis

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