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Article

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

Human mutation - 1 Oct 2021

Fortuno Cristina, Pesaran Tina, Dolinsky Jill, Yussuf Amal, McGoldrick Kelly, Tavtigian Sean V, Goldgar David, Spurdle Amanda B, James Paul A

Abstract excerpt

Multigene panel testing has led to an increase in the number of variants of uncertain significance identified in the TP53 gene, associated with Li-Fraumeni syndrome. We previously developed a quantitative model for predicting the pathogenicity of P53 missense variants based on the combination of calibrated bioinformatic information and somatic to germline ratio. Here, we extended this quantitative model for the...

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Share to Genes, p53
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Li-Fraumeni Syndrome

Share to Mutation, Missense

Share to Tumor Suppressor Protein p53

Source

Identifiers

PMID: 34273903
DOI: 10.1002/humu.24264

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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