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Details for SQSTM1:c.457G>A, p.Val153Ile

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
179251013	179824013

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.457G>A

PROTEIN CHANGE

p.Val153Ile

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
0.0002906	0.0	0.0002891	0.0003972	5.44e-05	0.0	0.0004228	0.0009785	0.0001307

ESP
AA	EA
0.0	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.950404	Disease causing

DBSNP ID

1 combination linked to SQSTM1:c.457G>A, p.Val153Ile

1 disease linked to SQSTM1:c.457G>A, p.Val153Ile

Amyotrophic lateral sclerosis

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