Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis

BMC Genomic Data

Table 1 Missense variants predicted as deleterious by multiple algorithms (SIFT, polyphen, CADD, MetaLR, mutation assessor)

ID of SNPs	Clin. Sig.	SUB	SIFT		PolyPhen		CADD		MetaLR		Mutation Assessor
ID of SNPs	Clin. Sig.	SUB	Score	Pred	Score	Pred	Score	Pred	Score	Pred	Score	Pred
rs1413852868	uncertSig	A137D	0	Del	0.956	ProbDam	32	LikDel	0.963	Dam	0.954	high
rs1436441738	LikPath ~ Path	S141 F	0	Del	1	ProbDam	33	LikDel	0.975	Dam	0.95	high
rs764288123	Indet	F142S	0.02	Del	0.991	ProbDam	32	LikDel	0.971	Dam	0.954	high
rs1555563010	LikPath	R151G	0	Del	0.836	PossDam	32	LikDel	0.968	Dam	0.966	high
rs371533565	uncertSig	D161H	0	Del	0.999	ProbDam	32	LikDel	0.974	Dam	0.933	high
rs2150925336	LikPath	S270 F	0	Del	0.998	ProbDam	32	LikDel	0.963	Dam	0.932	high
rs2150925451	uncertSig/LikPath/Path	K280 T	0	Del	0.998	ProbDam	34	LikDel	0.972	Dam	0.951	high
rs2150925451	uncertSig/LikPath/Path	K280R	0	Del	0.997	ProbDam	35	LikDel	0.972	Dam	0.951	high
rs746469285	Indet	P283L	0	Del	0.999	ProbDam	31	LikDel	0.999	Dam	0.951	high
rs1238793405	Indet	Q284H	0	Del	0.999	ProbDam	36	LikDel	0.999	Dam	0.839	high
rs759363199	Indet	S293G	0	Del	0.993	ProbDam	33	LikDel	0.983	Dam	0.95	high
rs755702977	uncertSig	G296S	0	Del	1	ProbDam	32	LikDel	0.988	Dam	0.951	high
rs1332086669	Indet	S298G	0	Del	0.992	ProbDam	30	LikDel	0.986	Dam	0.946	high
rs1263951539	uncertSig	D305G	0	Del	1	ProbDam	32	LikDel	0.973	Dam	0.951	high
rs746307931	Path	G308R	0	Del	1	ProbDam	32	LikDel	0.988	Dam	0.951	high
rs908965524	Path	G308 V	0	Del	1	ProbDam	32	LikDel	0.988	Dam	0.951	high
rs373903147	Indet	G309 V	0	Del	1	ProbDam	31	LikDel	0.973	Dam	0.95	high
rs769659540	Indet	H353D	0	Del	0.999	ProbDam	31	LikDel	0.968	Dam	0.961	high
rs1177103234	Indet	Y357H	0	Del	0.998	ProbDam	31	LikDel	0.986	Dam	0.962	high

ClinSig Clinical Significance, Del Deleterious, High High Functional Impact, Indet Indeterminate, LikDel Likely Deleterious, LikPath Likely Pathologic, Path Pathologic, PossDam Possibly Damaging, Pred Prediction, ProbDam Probably Damaging, SUB Amino acid substitution, UncertSig Uncertain Significance

ISSN: 2730-6844