Table 2.
Qualifying CARD10 (NM_014550.3) variants captured in glaucoma cohort and controls. SIFT score <0.05 is predicted damaging. PolyPhen2 HVAR score >0.909 is predicted damaging
| cDNA | Residue | SIFT | PolyPhen2 | POAG cases | POAG freq | Control freq | ExAC freq |
|---|---|---|---|---|---|---|---|
| c.635G>A | p.Arg212His | 0.10 | 0.987 | 1 | 2.7 × 10−3 | 0 | 0 |
| c.983C>T | p.Ala328Val | 0.02 | 0.944 | 3 | 8.0 × 10−3 | 9.1 × 10−4 | 3.6 × 10−3 |
| c.1024G>A | p.Val342Met | 0.04 | 0.025 | 1 | 2.7 × 10−3 | 0 | 2 × 10−4 |
| c.1210C>T | p.Arg404Trp | 0.01 | 0.764 | 1 | 2.7 × 10−3 | 0 | 1.5 × 10−5 |
| c.2485C>T | p.Arg829Trp | 0.02 | 0.01 | 2 | 5.3 × 10−3 | 0 | 4.0 × 10−4 |
| c.3081delC | p.Pro1027fs | 0 | 0 | 4.6 × 10−4 | 0 |