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Details for LRP5:c.1330C>T, p.Arg444Cys

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68154098	68386630

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1330C>T

PROTEIN CHANGE

p.Arg444Cys

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
1.998e-50	0.0	0.0	0.0	0.0	4.633e-05	3.541e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.346486	Disease causing

DBSNP ID

1 combination linked to LRP5:c.1330C>T, p.Arg444Cys

1 disease linked to LRP5:c.1330C>T, p.Arg444Cys

Familial exudative vitreoretinopathy

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