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Details for PINK1:c.1196C>T, p.Pro399Leu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
20975070	20648577

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1196C>T

PROTEIN CHANGE

p.Pro399Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.592e-05	0.0	0.0	0.0	5.439e-05	0.0	0.0	0.0	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.272434	Disease causing

DBSNP ID

1 combination linked to PINK1:c.1196C>T, p.Pro399Leu

1 disease linked to PINK1:c.1196C>T, p.Pro399Leu

Young-onset Parkinson disease

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