Table 1 Effect of genetic variants according to in silico prediction programs
From: A clinical case of multiple primary cancers in a carrier of rare SDK2 and NOTCH2 gene mutations
In silico prediction programs | rs746551843 | rs144933006 |
|---|---|---|
SIFT | Deleterious | Deleterious |
PROVEAN | Deleterious | Deleterious |
LRT | Unknown | Deleterious |
FATHMM | Tolerated | Tolerated |
Mutation Assessor | Medium impact | Medium impact |
MutationTaster | Disease causing | Disease causing |
PolyPhen-2 HDIV | Probably damaging | Probably damaging |
PolyPhen-2 HVAR | Probably damaging | Probably damaging |