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Details for SOD1:p.Val48Ala

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
33036173	31663860

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Val48Ala

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	Possibly Damaging	3.189243	Disease causing

DBSNP ID

1 combination linked to SOD1:p.Val48Ala

1 disease linked to SOD1:p.Val48Ala

Amyotrophic lateral sclerosis

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