Table 2 Results of predictive tools for TBX1 variant
From: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
Predictive tool | Score | Prediction |
|---|---|---|
SIFT | 0.001 | Damaging |
Polyphen 2 HumDiv | 1.0 | Probably Damaging |
AlphaMissense | 0.99 | Likely Pathogenic |
REVEL | 0.74 | Damaging |
CADD | 30 | Damaging |