A total of 213 PTEN missense variants comprising of 147 VUS, 54 ClinVar Pathogenic and 12 Benign variants were slected for classification utilizing the MD simulations study.
A total of 213 PTEN missense variants comprising of 147 VUS, 54 ClinVar Pathogenic and 12 Benign variants were slected for classification utilizing the MD simulations study.
Single nucleotide variants (SNVs) in intronic regions have yet to be systematically investigated for their disease-causing potential. Using known pathogenic and neutral intronic SNVs (iSNVs) as traini
List of SNVs localized within five highest ranked genes based on prioritization analysis with ToppGene, which were predicted as probably or possibly damaging or deleterious during PolyPhen and SIFT an
This file contains AlphScore_final as described in our associated publication. The file is based on dbNSFP 4.2a, contains a header and is tab-separated and compressed using bgzip. The columns contain