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[Preprint]. 2023 Feb 1:rs.3.rs-2508462. [Version 1] doi: 10.21203/rs.3.rs-2508462/v1

Figure 5.

Figure 5

Protein features for prioritizing VUSs. Folding free energy differences (ΔΔGFold) 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