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Details for PRKN:p.Pro437Leu

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
161771219	161350187

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Pro437Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001586	0.0004994	0.001943	0.0008977	5.457e-05	0.0002323	0.002547	0.003128	0.0

ESP
AA	EA
0.0009079	0.00314

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.009061	Disease causing

DBSNP ID

1 combination linked to PRKN:p.Pro437Leu

1 disease linked to PRKN:p.Pro437Leu

Parkinson disease

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