Algorithmic Assessment of Missense Mutation Severity in the Von-Hippel Lindau Protein
F. Fields, N. Suresh, M. Hiller, S. Freed, K. Haldar, S. Lee
The paper develops a multiparametric scoring algorithm to assess the severity of missense mutations in the VHL protein using 285 ClinVar mutations, linking higher scores to pathogenicity.
bioRxiv · May 20, 2020Pathology