BayesDel

BayesDel is a meta-score that assesses the deleteriousness of genetic variants, including single nucleotide variants and small insertion / deletions, coding or non-coding. It ranges from -1.29334 to 0.75731. Variants with a higher score are more likely to be pathogenic. Current version is 1.0 (build date 2017-08-24).

There is a universal cutoff value (0.0692655 with MaxAF, -0.0570105 without MaxAF) that was obtained by maximizing sensitivity and specificity in classifying ClinVar variants. These cutoff values were designed for gene discovery research, not for clinical operations. For clinical variant classification, please be referred to Pejaver et al. Am J Hum Genet. 2022 (PMID: 36413997).