Table 3 Analysis of functionally characterized SNVs with different computational variant effect prediction (VEP) tools.

From: A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot–Marie-Tooth disease of type 2 A

  1. SNVs carrying the indicated amino acid changes were classified according to their impact on the measured fusion capacity. VEP tools were classified according to the analysis strategy: integrative analysis of several parameters and VEP scores, analysis of DNA conservation, and analysis of protein sequence alterations. The VEP scores and the resulting interpretation/prediction is indicated. Green: BEN/benign, TOL/tolerated, NEU/neutral. Red/orange: P/pathogenic, LP/likely pathogenic, dam/damaging, dis/disease, DEL/deleterious, PAT/pathogenic. Black: CI/conflicting interpretations, UNC/uncertain, AMB/ambiguous. The variant effect predictions obtained with protein-based tools correlate with the fusion capacity of the respective variants. Further information on the VEP tools and on the threshold values applied for classification are available in supplementary table 3.
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