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Details for OCA2:c.2497G>T, p.Val833Leu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
28000554	27755408

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2497G>T

PROTEIN CHANGE

p.Val833Leu

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.400359	Polymorphism

DBSNP ID

1 combination linked to OCA2:c.2497G>T, p.Val833Leu

1 disease linked to OCA2:c.2497G>T, p.Val833Leu

Oculocutaneous albinism

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