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Details for PRF1:c.992C>T, p.Ser331Leu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
72358485	70598729

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.992C>T

PROTEIN CHANGE

p.Ser331Leu

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
1.194e-05	0.0	0.0	0.0	0.0	0.0	1.761e-05	0.000163	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.095402	Polymorphism

DBSNP ID

1 combination linked to PRF1:c.992C>T, p.Ser331Leu

1 disease linked to PRF1:c.992C>T, p.Ser331Leu

Familial hemophagocytic lymphohistiocytosis

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