Table 2.
Examples of naturally occurring genetic variants of CAV1
| Variant | Raw CADD | PHRED | Allele frequency | SIFT | SIFT category | PolyPhen | PolyPhen category | Rosetta ddG |
|---|---|---|---|---|---|---|---|---|
| P132L | 3.91 | 27.00 | 0.000003984 | 0.00 | Deleterious | 1.00 | Probably damaging | 3.78 |
| P132A | 3.50 | 25.00 | 0.0000239 | 0.00 | Deleterious | 1.00 | Probably damaging | 1.97 |
| P132S | 3.70 | 25.70 | 0.000003984 | 0.00 | Deleterious | 1.00 | Probably damaging | 2.86 |
| V130F | 3.99 | 27.60 | 0.000003984 | 0.00 | Deleterious | 0.67 | Possibly damaging | 4.20 |
| V130L | 3.32 | 24.40 | 0.000003984 | 0.04 | Deleterious | 0.33 | Benign | 1.70 |
| V130I | 3.16 | 24.00 | 0.000003984 | 0.31 | Tolerated | 0.33 | Benign | 1.37 |
| L122F | 2.91 | 23.40 | 0.000003982 | 0.01 | Deleterious | 0.13 | Benign | 2.50 |
| L122V | 2.13 | 20.90 | 0.000003982 | 0.16 | Tolerated | 0.03 | Benign | −1.70 |
CADD, PHRED, allele frequency, SIFT, and PolyPhen scores for each variant were obtained from Uniprot or gnomAD. Rosetta ddG values are from the current study and are reported in Rosetta Energy Units (REU).