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Article

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

PloS one - 1 Jan 2024

McDonald Eli Fritz, Oliver Kathryn E, Schlebach Jonathan P, Meiler Jens, Plate Lars

Abstract excerpt

Variants in the cystic fibrosis transmembrane conductance regulator gene (CFTR) result in cystic fibrosis-a lethal autosomal recessive disorder. Missense variants that alter a single amino acid in the CFTR protein are among the most common cystic fibrosis variants, yet tools for accurately predicting molecular consequences of missense variants have been limited to date. AlphaMissense (AM) is a new technology that...

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Identifiers

PMID: 38271453
DOI: 10.1371/journal.pone.0297560
PMCID: PMC10810519

Genes

CFTR

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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