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Details for LRP5:c.4565C>T, p.Pro1522Leu

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68213980	68446512

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.4565C>T

PROTEIN CHANGE

p.Pro1522Leu

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
0.0002905	6.155e-05	0.0002024	0.0	0.0	0.001204	0.0003168	0.0003258	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.919296	Disease causing

DBSNP ID

1 combination linked to LRP5:c.4565C>T, p.Pro1522Leu

1 disease linked to LRP5:c.4565C>T, p.Pro1522Leu

Familial exudative vitreoretinopathy

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