@genebe/func_vep

FuncVEP-CTI missense variant effect score

This annotation provides the precomputed FuncVEP_CTI score for all possible human missense SNVs from FuncVEP. Only this score is retained; the source gene identifier and all other FuncVEP and ClinVEP score columns are deliberately omitted.

FuncVEP is a machine-learning predictor trained on diverse functional evidence. Its CTI model includes clinical-trained predictor features and estimates the functional impact of missense variants. The score is supplied as additional computational evidence for variant interpretation; it does not replace expert review, phenotype correlation, or other ACMG/AMP evidence.

Citation

Kayaalp B, Çil K, Conil C, et al. Prediction of human missense variant effects from functional evidence. Nature Genetics. 2026. https://doi.org/10.1038/s41588-026-02727-3

Precomputed FuncVEP scores and source code: https://github.com/OzcelikLab/FuncVEP