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Table 2 In silico predictions of functional effects for the three mutations identified in this study

From: Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

Prediction program CRYGD GJA8 GJA8
c.70C > A c.20T > C c.293A > C
p.Pro24Thr p.Leu7Pro p.His98Pro
SIFT Value (<0.05) 0.10 0.00 0.00
Prediction Tolerated Not tolerated Not tolerated
Polyphen-2 Score 0.084 0.991 1.000
Prediction Benign Probably damaging Probably damaging
PMUT NN output 0.0936 0.8749 0.7822
Reliability 8 7 5
Prediction Neutral Pathological Pathological
PANTHER subPSEC (<-3) -2.35974 -4.3388 -3.98807
Pdeleterious (>0.5) 0.34519 0.79148 0.72871
PON-P2 Probability for pathogenicity 0.479 0.947 0.444
Standard error 0.332 0.050 0.090
Prediction Unknown Pathogenic Unknown
MutPred Probability of deleterious mutation 0.840 0.918 0.889
Molecular mechanisms disrupted   Loss of stability (p =0.0067)  
  Gain of disorder (p =0.0099)