Table 3 Prediction of the pathogenicity of the p.Arg716Gln mutation in the RAG1
From: A variant of RAG1 gene identified in severe combined immunodeficiency: a case report
Software | Prediction | Score |
|---|---|---|
SIFT | Damaging | 0 |
Provean | Deleterious | -2.5 |
Polyphen | Probably damaging | 0.99 |
Mutation Assessor | High functional impact | 3.705 |
Mutation Taster | Disease causing | 1 |
FATHMM | Damaging | -2.85 |