Combined Genetic Biomarkers Confer Susceptibility to Risk of Urothelial Bladder Carcinoma in a Saudi Population

Table 5

SIFT and PolyPhen2 functional predictions of SNP markers.

SNP ID	Allele	Amino acid position	SIFT			PolyPhen2
			Score	Prediction	Confidence	Score	Prediction
rs1048943	T>C	p.I462V	0.16	Tolerated	High	0.18	Benign
rs4646903	A>G		—	—	—	—	—
rs1042522	G>C	p.P72A	0.16	Tolerated	High	0.265	Possibly damaging
rs1801133	C>T	p.A222V	0.03	Damaging	High	0.235	Possibly damaging
rs1801394	A>G	p.I22M	0.01	Damaging	High	0.962	Possibly damaging

SIFT, Sorting Intolerant From Tolerant (http://sift.jcvi.org/); PolyPhen2, Polymorphism phenotyping (http://genetics.bwh.harvard.edu/pph2/).
: not applicable as it is in the noncoding 3′ flanking untranslated region. Low confidence means that the protein alignment does not have enough sequence diversity. Because the position artificially appears to be conserved, an amino acid may incorrectly be predicted to be damaging.