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Details for PROKR2:c.1000G>A, p.Val334Met

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5282841	5302195

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1000G>A

PROTEIN CHANGE

p.Val334Met

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
3.579e-05	0.0	5.782e-05	0.0	0.0001631	0.0	3.516e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.5089	Disease causing

DBSNP ID

1 combination linked to PROKR2:c.1000G>A, p.Val334Met

1 disease linked to PROKR2:c.1000G>A, p.Val334Met

Kallmann syndrome

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