GABRA1 Missense Variants: Pathogenicity and Phenotype Analysis for 61 Variants

Wen-Hui Liu's dataset, last updated May 2026, contains analysis of 61 GABRA1 missense variants. It includes 30 pathogenic/likely pathogenic variants from patients and 31 benign/likely benign controls from the gnomAD database. The data supports the evaluation of 34 computational algorithms for predicting variant pathogenicity.

Use Cases

• Benchmarking pathogenicity prediction algorithms based on performance metrics like accuracy and AUC.
• Analyzing molecular subregional effects on phenotype based on variant domain location.
• Training or validating ensemble and deep learning models for variant classification using the curated variant set.

Strengths

• Includes 61 specifically curated GABRA1 missense variants with known pathogenicity labels.
• Evaluates 34 distinct computational algorithms with multiple performance metrics reported.
• Data shows significant molecular subregional effects, with all transmembrane variants linked to severe DEE.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is small at 7.3 KB, indicating a limited scope focused on a specific gene.

Provenance

Source

figshare, author Wen-Hui Liu.

Collection Method

Curated from published disease-associated variants and control variants from the gnomAD database.

Freshness

Last updated 2026-05-18 22:02:40; freshness should be verified.