Fernandosr85/adaption-sos1-variant-prioritization

该数据集是一个经过重新制作的版本，包含与努南综合征相关的SOS1错义变体的结构化研究优先级评估。每个条目详细记录了计算证据指标，包括CADD PHRED分数、AlphaMissense预测和gnomAD频率，以及功能域定位。完成部分严格保留了源数据的研究层级和分数，同时提供了功能后续研究的理由，但不进行临床分类。数据集包含223个数据点，质量评级为A，相对质量提高了37.1%。领域分布为科学（74%）、医学（22%）和代码（4%），语言为英语（100%），语气主要为技术性（93%）。

This dataset is a remastered version containing structured research prioritization assessments for SOS1 missense variants associated with Noonan Syndrome. Each entry details computational evidence metrics, including CADD PHRED scores, AlphaMissense predictions, and gnomAD frequencies, alongside functional domain localization. The completions strictly preserve source-derived investigation tiers and scores while providing rationales for functional follow-up without making clinical classifications. There are 223 data points in the dataset, with a quality grade of A and a relative quality improvement of 37.1%. The domain distribution is Science (74%), Medical (22%), and Code (4%), the language is English (100%), and the tone is primarily Technical (93%).