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Details for SOD1:p.Ala5Val

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
33032096	31659783

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala5Val

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
3.593e-05	0.0	0.0	0.0	0.0	0.0	7.957e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.676688	Disease causing

DBSNP ID

1 combination linked to SOD1:p.Ala5Val

1 disease linked to SOD1:p.Ala5Val

Amyotrophic lateral sclerosis

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