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. 2023 Apr 22;142(6):819–834. doi: 10.1007/s00439-023-02559-9

Fig. 5.

Fig. 5

Protein features for prioritizing VUSs. Folding free energy differences (∆∆GFold) versus a percent of solvent accessible surface area (SASA) at a variant’s amino acid position, and b model confidence at the variant position for all classified missense variants in the Deafness Variation Database (DVD). Pathogenic and likely pathogenic variants favor buried, high confidence protein regions. c A histogram of the percent SASA for all prioritized VUSs. Similar to known P and LP, the prioritized VUSs are mostly in buried, high confidence protein regions