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Details for PRF1:c.503G>A, p.Ser168Asn

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
72360156	70600400

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.503G>A

PROTEIN CHANGE

p.Ser168Asn

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
2.785e-05	0.0	0.0	0.0	0.0003806	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.070942	Disease causing

DBSNP ID

2 combinations linked to PRF1:c.503G>A, p.Ser168Asn

1 disease linked to PRF1:c.503G>A, p.Ser168Asn

Primary hemophagocytic lymphohistiocytosis

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