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Details for OPTN:c.1588C>A, p.Gln530Lys

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
13175557	13133557

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1588C>A

PROTEIN CHANGE

p.Gln530Lys

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
2.386e-05	0.0	8.674e-05	0.0	0.0	0.0	2.637e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.421725	Polymorphism

DBSNP ID

1 combination linked to OPTN:c.1588C>A, p.Gln530Lys

1 disease linked to OPTN:c.1588C>A, p.Gln530Lys

Amyotrophic lateral sclerosis

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