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Details for SOD1:p.Ala90Val

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
33039600	31667287

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala90Val

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
1.193e-05	0.0	0.0	0.0	0.0	4.619e-05	1.758e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.0021	Disease causing

DBSNP ID

8 combinations linked to SOD1:p.Ala90Val

OLI328; OLI329; OLI330; OLI331; OLI332; OLI333; OLI334; OLI335

1 disease linked to SOD1:p.Ala90Val

Amyotrophic lateral sclerosis

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