Table 2. Mutations in NMNAT1: pathogenicity predictions and population frequencies.
| Variant | PhyloP | SIFT | PolyPhen2 | Heterozygous exome variant server occurrence (European American) per 4,289 persons |
|---|---|---|---|---|
| c.53A>G (p.N18S) |
4.08 |
tolerated |
probably damaging |
0 |
| c.115+3A>G (p.?) |
0.53 |
- |
- |
46 |
| c.253T>C (p.W85R) |
4.81 |
deleterious |
probably damaging |
0 |
| c.472G>C (p.D158H) |
6.02 |
deleterious |
probably damaging |
0 |
| c.595G>T (p.E199*) |
2.79 |
- |
- |
0 |
| c.617A>G (p.H206R) |
4.89 |
deleterious |
probably damaging |
0 |
| c.619C>T (p.R207W) |
1.90 |
deleterious |
benign |
2 |
| c.731T>C (p.V244A) |
4.48 |
deleterious |
probably damaging |
0 |
| c.769G>A (p.E257K) | 3.84 | tolerated | benign | 11 |