Figure 3 | Scientific Reports

Figure 3

From: Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency

Figure 3The alternative text for this image may have been generated using AI.

Classification of 1,960 missense variants linked to hearing loss according to in-silico prediction and filtering allele frequency. A total of 1,960 missense mutations were evaluated for pathogenicity using the NSHL-optimized ACMG guidelines and InterVar. Filtering AFs were compared with AF thresholds calculated in this study: 0.1% for dominant genes (Dom), and 0.6% for recessive (Rec) and dominant/recessive (Dom/Rec) genes, respectively. Relative proportions of pathogenic and benign variants and variants of unknown significance (VUS) according to in-silico prediction were shown.

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