Table 2 In silico predictions for the CRYAA variants
Variant | Inheritance | gnomAD Freq | ACMG classification (criteria) | GERP | PhyloP100 | CADD | DANN | FATHMM-MKL | Mutation Taster | Eigen | In silico splicing prediction | SIFT | Align GV-GD |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c.520T > C; p.(*174Glnext*41) | de novo | None | Likely pathogenic (PM2, PM4, PP3, PS2) | 3.7899 | 2.87 | 15.34 | 0.8224 | P (0.7147) | B | P (0.6226) | No effect on splicing | NA | NA |
c.521A > C; p.(*174Serext*41) | de novo | None | Likely pathogenic (PM2, PM4, PP3, PS2) | 3.7899 | 2.963 | 14.26 | 0.6924 | P (0.7147) | B | P (0.6226) | No effect on splicing | NA | NA |