Table 2:

Performance of the models in classification of putatively pathogenic (<10% wildtype GAA activity) vs. benign GAA mutations.

Binary class threshold = 10% WT enzyme activity (63 positives, 272 negatives)
Model	ROC_AUC	ACC	F1	TPR	FPR	TNR	PPV	NPV	MCC
AA_1	0.61	0.81	0.36	0.29	0.53	0.93	0.47	0.85	0.26
AA_2	0.59	0.8	0.32	0.25	0.56	0.93	0.44	0.84	0.23
AA_3	0.57	0.79	0.27	0.21	0.61	0.93	0.39	0.83	0.17
AA_4	0.63	0.82	0.41	0.33	0.48	0.93	0.52	0.86	0.32
Binary class threshold = 25% WT enzyme activity (125 positives, 210 negatives)
Model	ROC_AUC	ACC	F1	TPR	FPR	TNR	PPV	NPV	MCC
AA_1	0.62	0.69	0.47	0.38	0.36	0.87	0.64	0.70	0.29
AA_2	0.62	0.69	0.47	0.38	0.36	0.87	0.64	0.70	0.29
AA_3	0.6	0.66	0.45	0.38	0.44	0.82	0.56	0.69	0.22
AA_4	0.64	0.67	0.53	0.5	0.43	0.77	0.57	0.72	0.28