From: NRG1 variant effects in patients with Hirschsprung disease
Variant | SIFT | Polyphen2 – HDIV | Polyphen2 – HVAR | LRT | Mutation Taster | Mutation Assessor | FATHMM | CADD | DANN |
c.397G > C (p.V133 L) | 0.22 (tolerated) | 0.029 (benign) | 0.02 (benign) | 0 (neutral) | Disease causing | 0.805 (low) | 0 (tolerated) | 12.29 (benign) | 0.9892 (protein disrupting) |
rs7834206 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.6874 (non-protein disrupting) |
rs3735774 | 0.36 (tolerated) | 0.003 (benign) | 0.004 (benign) | 0 | Polymorphism | 0.345 (neutral) | 0 | 8.83 (benign) | 0.9957 (protein disrupting) |
rs75155858 | 0 | 0.962 (probably damaging) | 0.784 (possibly damaging) | 0.004 (neutral) | Polymorphism automatic | 0.895 (low) | 0.4 (tolerated) | 14.6 (benign) | 0.9934 (protein disrupting) |
Prediction scores interpretation: | |||||||||
Method | Deleterious cut-off | ||||||||
SIFT | < 0.05 | ||||||||
Polyphen2 HDIV | > 0.453 | ||||||||
Polyphen2 HVAR | > 0.447 | ||||||||
LRT | > 0.999 | ||||||||
Mutation Taster | D (disease causing) or P (polymorphism) | ||||||||
Mutation Assessor | > 0.65 | ||||||||
FATHMM | < −1.5 | ||||||||
CADD | > 15 | ||||||||
DANN | > 0.98 (protein disrupting) 0.93–0.98 (splice site/promoter region) < 0.93 (non-protein disrupting) |