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Details for PROKR2:c.565G>T, p.Ala189Ser

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5283276	5302630

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.565G>T

PROTEIN CHANGE

p.Ala189Ser

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	Damaging	3.49864	Polymorphism

DBSNP ID

1 combination linked to PROKR2:c.565G>T, p.Ala189Ser

1 disease linked to PROKR2:c.565G>T, p.Ala189Ser

Kallmann syndrome

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