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Details for UBQLN2:p.Thr334Met

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
56591307	56564874

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Thr334Met

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
5.508e-05	0.0001538	0.0	0.0	0.0	0.0	9.891e-05	0.0	0.0

ESP
AA	EA
0.0002608	0.0001487

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.452351	Polymorphism

DBSNP ID

1 combination linked to UBQLN2:p.Thr334Met

1 disease linked to UBQLN2:p.Thr334Met

Amyotrophic lateral sclerosis

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