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Details for ALS2:p.Pro1288Leu

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
202580536	201715813

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Pro1288Leu

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
5.216e-05	0.0	0.0	0.0	0.0	0.0	0.0001151	0.0	0.0

ESP
AA	EA
0.0	0.0003655

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.983401	Polymorphism

DBSNP ID

1 combination linked to ALS2:p.Pro1288Leu

1 disease linked to ALS2:p.Pro1288Leu

Amyotrophic lateral sclerosis

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