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Details for PINK1:c.364G>A, p.Val122Ile

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
20960405	20633912

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.364G>A

PROTEIN CHANGE

p.Val122Ile

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.075382	Polymorphism

DBSNP ID

1 combination linked to PINK1:c.364G>A, p.Val122Ile

1 disease linked to PINK1:c.364G>A, p.Val122Ile

Parkinson disease

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