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Details for ENG:c.589C>T, p.Arg197Trp

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
130588074	127825795

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.589C>T

PROTEIN CHANGE

p.Arg197Trp

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
2.386e-05	0.0	0.0	0.000218	0.0	0.0	1.102e-05	0.0001893	3.695e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.164463	Polymorphism

DBSNP ID

1 combination linked to ENG:c.589C>T, p.Arg197Trp

1 disease linked to ENG:c.589C>T, p.Arg197Trp

Cerebral arteriovenous malformation

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