Table 1.
Predicted functional consequences of human nsSNPs
| Algorithm | D Min | CDK2 | MLH1 | SMC1B | TEX15 |
| rs3087335 | rs63750447 | rs61735519 | rs147871035 | ||
| Cdk2Y15S | Mlh1V384D | Smc1bF1055L | Tex15T2181I | ||
| SIFT | ≤ 0.05 | D (0) | D (0) | D (0) | D (0) |
| PolyPhen 2 | >0.5 | D (1) | D (0.99) | D (0.99) | D (0.92) |
| Mutation Assessor | >0.65 | D (2.3) | D (3.2) | D (3.2) | D (1.8) |
| PANTHER | ≥0.5 | D (0.8) | D (0.5) | D (0.7) | T (0.4) |
| PhD-SNP | ≥0.5 | D (0.9) | D (0.9) | T (0.4) | D (0.7) |
| SNPs&GO | ≥0.5 | D (0.9) | D (0.9) | T (0.4) | D (0.7) |
| SNAP | ≥5 | D (5) | D (5) | T (2) | T (3) |
| CADD* | >15 | D (23) | D (19.5) | D (25.5) | D (24.3) |
The allele for each SNP (rs no.) modeled is indicated. D Min refers to the minimum score for deleterious classification; D, deleterious; T, tolerated.
*
CADD scores based on v1.1.