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Details for CYP1B1:p.Ala115Pro

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
38302189	38075046

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala115Pro

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
9.958e-06	0.0	0.0	0.0	0.0	0.0	1.117e-05	0.0	3.55e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.978084	Disease causing

DBSNP ID

1 combination linked to CYP1B1:p.Ala115Pro

1 disease linked to CYP1B1:p.Ala115Pro

Congenital glaucoma

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