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Abstract
The *PAX6* gene encodes a transcription factor crucial for eye development. Many *PAX6* missense variants are classified as variants of uncertain significance (VUS). This study evaluated and optimized the performance of ten computational prediction tools using 241 *PAX6* missense variants. AlphaMissense, SIFT4G, and REVEL showed the best performance with optimized thresholds of 0.967, 0.025, and 0.772, respectively. Using AlphaMissense alone outperformed combining the top three tools. Optimized, gene-specific thresholds significantly enhance the accuracy of computational tools for *PAX6* variant interpretation.
Publisher
European Journal of Human Genetics
Published On
Jun 07, 2024
Authors
Nadya S. Andhika, Susmito Biswas, Claire Hardcastle, David J. Green, Simon C. Ramsden, Ewan Birney, Graeme C. Black, Panagiotis I. Sergouniotis
Tags
PAX6
missense variants
computational tools
variant interpretation
transcription factor
eye development
genetic analysis

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