Table 2 Interpretation scores for the pathogenicity of p.R775H variant in JAK3 gene (neu: neutral; del: deleterious)
From: Graft versus host disease and microchimerism in a JAK3 deficient patient
Software name | Predict SNP | PhD-SNP | Polyphen-1 | Polyphen-2 | SIFT | SNAP | Mutation taster prediction | Pathogenicity (ACMG) |
|---|---|---|---|---|---|---|---|---|
Score/prediction | 72% del | 61% del | 74% del | 81% del | 79% del | 72% del | Disease causing | Likely Pathogenic |