Article

Ensemble AI Screening of 1,211 TP53 Variants of Uncertain Significance

2026-02-06

Abstract excerpt

<title>Abstract</title> <p> <bold>Background.</bold> TP53 is the most frequently mutated gene in human cancer, yet over 1,200 missense variants in ClinVar remain classified as Variants of Uncertain Significance (VUS), limiting their clinical utility in precision oncology. <bold>Methods.</bold> We applied two orthogonal deep-learning models—Meta's ESM-2 (esm2_t33_650M_UR50D; 650M parameters) and DeepMind's Alp...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4fd02173-de0e-543c-b02a-1eb7aafdee25
DOI: 10.21203/rs.3.rs-8794996/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Ensemble AI Screening of 1,211 TP53 Variants of Uncertain SignificanceDOI 10.21203/rs.3.rs-8794996/v1Read

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variantsSemantic proximity Read

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.Semantic proximity Read

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene <i>TP53</i>Semantic proximity Read

An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.Semantic proximity Read

TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counselingSemantic proximity Read

Causal Prediction of TP53 Variant Pathogenicity Using a Perturbation-Informed Protein Language Model.Semantic proximity Read

MobiDeep: an AI-based meta-score for scoring non-coding DNA variationsSemantic proximity Read

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53Semantic proximity Read

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction modelsSemantic proximity Read

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variantsSemantic proximity Read

Comprehensive In Silico Functional Characterization of TP53 Variants Using an Automated Web-Based Annotation PlatformSemantic proximity Read

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysisSemantic proximity Read