This dataset is a remastered version prepared using Adaption's Adaptive Data platform.
This dataset contains structured research prioritization assessments for high-priority (Tier 1) missense variants in the MAP2K1 gene associated with RASopathies like Cardio-Facio-Cutaneous Syndrome. Each entry provides computational evidence scores (CADD, AlphaMissense), population frequency data, and structural context within the MEK1 kinase domain to guide… See the full description on the dataset page:
https://huggingface.co/datasets/Fernandosr85/adaption-map2k1-rasopathy-tier1.
