From: A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report
Tools | PolyPhen2 | CADD | SIFT | Mutation Taster | ||||
---|---|---|---|---|---|---|---|---|
Prediction | Score | Prediction | Score (cutoff = 12.37) | Prediction | Score (cutoff = 0.05) | Prediction | Probability | |
p.N1318S | Damaging | 1.000 | Deleterious | 23.2 | Deleterious | 0.000 | Disease causing | 1 |