Table 1 Results of the in-silico pathogenicity prediction tools
Gene | SNV ID | Variant | PROVEAN | SIFT | PolyPhen-2 | SNPs&GO | PhD-SNP | ConSurf | Align GVGD |
|---|---|---|---|---|---|---|---|---|---|
BRCA1 | rs1555587813 | Asp1131Gly | Deleterious | Significantly Impacting | Possibly damaging | Neutral | Disease polymorphism (RI 8) | Averagely conserved (Score 5) | Class C65 |
BRIP1 | rs45437094 | Arg1035Cys | Neutral | Less like to affect | Benign | Neutral | Neutral (RI 8) | Moderately Variable (Score 4) | Class C65 |
CHEK2 | rs375507194 | Gln20His | Neutral | Not deleterious | Probably damaging | Neutral | Neutral (RI 7) | Averagely conserved (Score 5) | Class C15 |
MET | rs1207381066 | Arg280Ser | Deleterious | Damaged | Probably damaging | Disease | Disease polymorphism (RI 5) | Highly conserved (Score 9) | Class C65 |
STK11 | rs545015076 | Asn119Asp | Deleterious | Less like to affect | Benign | Neutral | Neutral (RI 5) | Moderately conserved (Score 6) | Class C15 |