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Details for PINK1:p.Glu476Lys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
20975662	20649169

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Glu476Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0112	0.0378	0.0058	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003127	0.04126	0.002632	0.0	0.0	0.0	0.0001499	0.0008162	6.533e-05

ESP
AA	EA
0.0429	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.14045	Polymorphism

DBSNP ID

1 combination linked to PINK1:p.Glu476Lys

1 disease linked to PINK1:p.Glu476Lys

Parkinson disease

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