Table 2 Fivefold cross validation results showing the performance of the AlphaMissense tool (in tasks involving PAX6 missense variant evaluation).

From: Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene

Test

Sp (%)

Sn (%)

Acc (%)

PPV (%)

MCC

1

93

94

93

97

0.85

2

86

97

93

94

0.84

3

93

84

87

96

0.74

4

93

82

85

96

0.70

5

100

91

94

100

0.87

Average

93.1 ± 5.1

89.5 ± 6.3

90.6 ± 4.0

96.7 ± 2.2

0.80 ± 0.1

  1. All percentages were rounded to zero decimal points.
  2. Sp specificity, Sn sensitivity, Acc accuracy, PPV positive predictive value, MCC Matthews correlation coefficient.
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