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Details for PROKR2:c.271C>T, p.Leu91Phe

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5294745	5314099

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.271C>T

PROTEIN CHANGE

p.Leu91Phe

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
7.953e-06	0.0	2.891e-05	0.0	0.0	0.0	8.79e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.449138	Disease causing

DBSNP ID

1 combination linked to PROKR2:c.271C>T, p.Leu91Phe

1 disease linked to PROKR2:c.271C>T, p.Leu91Phe

Kallmann syndrome

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