Table 1 of
Men, Mol Vis 2017; 23:695-706. Table 1 of
Men, Mol Vis 2017; 23:695-706.
Table 1. Prediction of pathogenicity of CACNA1F c.4487G>A mutation leading to p.(Gly1496Glu) change.
| Variables | Prediction software | Prediction | Score |
|---|---|---|---|
| Amino-Acid change | Polyphen-2 | Probably Damaging | 1 |
| SIFT | Damaging | 0 | |
| Provean | Deleterious | −7.49 | |
| MutationTaster | Disease causing | 0.9999 | |
| Nucleotide conservation | PhyloP | Conserved | 5.512 |
| PhastCons | Conserved | 1 | |
| GERP | Conserved | 5.37 |