A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

Table 2 Bioinformatic analysis of new identified mutation (p.W374G) in PRF1 gene in the proband

Chr^a	Start	Ref^b	Alt^c	Gene	Zygocity	Function	Freq^d	dbSNP
10	72358357	A	C	PRF1	Homo	Non-synonymous	0	0
SIFT	Pred^e	Polyphen	Pred	Mutation Taster	Pred	Mutation Assessor	Pred	FATHMM	Pred
0.1	T	0.958	Damaging	1	Damaging	2.71	Medium	-.2.83	Damaging
VEST3	CADD	Phred	GERP++_RS	Raddial SVM	Raddial SVM	LR_score	LR_ pred	Phylo P46way	Phylo P100_vert
0.965	3.221	16.79	5.83	0.452	Damaging	0.707	Damaging	2.212	1.696

ISSN: 1471-2350