Table 2 Interpretation scores for the pathogenicity of p.K796N variant in ATRX gene
From: New heritable ATRX mutation identified by whole exome sequencing and review
Software | PredictSNP | Polyphen-1 | Polyphen-2 | SIFT |
|---|---|---|---|---|
Score | 51% | 59% | 43% | 53% |
Deleterious | Deleterious | Deleterious | Deleterious |