Skip to main content

Table 5 Assessment of the effect of different variants as provided by the SIFT and PolyPhen algorithms showing disagreement: While for variants one and two only one program calculates a score resembling the (true) clinical findings, variant three is corroborated by both programs and agrees with the clinical findings

From: Variant information systems for precision oncology

rsID SIFT PolyPhen Clinical evidence
rs104894359 0 0.361 Pathogenic
rs121913529 0 1 Pathogenic
rs1137282 0.85 0.012 Benign
SIFT: 0 (deleterious) - 1 (tolerated)
PolyPhen: 0 (benign) - 1 (probably damaging)