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Details for PRF1:c.674G>A, p.Arg225Gln

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
72358803	70599047

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.674G>A

PROTEIN CHANGE

p.Arg225Gln

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
0.0001402	6.158e-05	5.79e-05	0.0	0.0004351	0.0	0.0002047	0.0	3.271e-05

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.366213	Disease causing

DBSNP ID

1 combination linked to PRF1:c.674G>A, p.Arg225Gln

1 disease linked to PRF1:c.674G>A, p.Arg225Gln

Primary hemophagocytic lymphohistiocytosis

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