This dataset is a remastered version prepared using Adaption's Adaptive Data platform.
This dataset contains research-level assessments of PTPN11 missense variants assigned to 'Tier 1' priority based on strict computational evidence filters. Each entry provides structured interpretations including CADD PHRED scores, AlphaMissense predictions, gnomAD frequencies, and functional domain contexts for the SHP-2 protein. The content focuses on… See the full description on the dataset page:
https://huggingface.co/datasets/Fernandosr85/adaption-ptpn11-tier1-variant-assessments.