Exploratory studyGCK · Variant classification
MODY2 Variant Classification
A small-data experiment classifying GCK variants associated with MODY2 from local sequence context.
Project record
This page reports the maturity and evidence documented in Ethosoft's working archive. It does not imply peer review, regulatory clearance, or clinical validation.
Methods and evidence
MODY2 Variant Classification
A small-data experiment classifying GCK variants associated with MODY2 from local sequence context.
- Dataset
- 317 pathogenic and 39 benign variants assembled from ClinVar and LOVD.
- Method
- 3-mer encoding, SMOTE within the training workflow, a 20% held test split, and a voting ensemble spanning tree, linear, kernel, and boosting models.
- Reported results
- Accuracy 78.35%, ROC AUC 0.7987, and PR AUC 0.8313.
Evidence boundary: 356 labeled variants are not sufficient for a clinical claim; the result is presented as an exploratory baseline.