Table 8.
Summarized results of WSR2 model interpretation for 16 pathogenic and likely pathogenic BRCA variants. Important features are retained with a P-value cutoff of 1E-02 and ranked from left to right in increasing P-values. PoP predictions of WSR3, more accurate yet less interpretable, are also reported. Bold-faced are correctly predicted (likely) pathogenic.
Variants | WSR2 | WSR3 | ||
---|---|---|---|---|
Predicted PoP | Indices of important features | Predicted PoP | ||
Class 5 | BRCA1 (NP_009225.1) | |||
p.M18T | 0.988 ± 0.003 | 2 5 6 9 8 7 | 0.953 ± 0.004 | |
p.C44F | 0.981 ± 0.002 | 8 7 2 6 5 9 1 | 0.957 ± 0.010 | |
p.C47Y | 0.953 ± 0.015 | 8 2 7 6 5 | 0.956 ± 0.004 | |
p.R71G | 0.803 ± 0.002 | 7 4 2 5 9 | 0.050 ± 0.002 | |
p.R1495T | 0.501 ± 0.020 | 1 5 2 | 0.990 ± 0.008 | |
p.E1559K | 0.501 ± 0.016 | 5 7 1 | 0.990 ± 0.009 | |
p.S1715N | 0.959 ± 0.003 | 5 2 6 9 7 4 | 0.953 ± 0.007 | |
BRCA2 (NP_000050.2) | ||||
p.R2659G | 0.981 ± 0.004 | 3 2 4 5 8 9 | 0.960 ± 0.005 | |
p.Q2829R | 0.697 ± 0.009 | 6 5 2 7 9 | 0.953 ± 0.009 | |
p.N3124I | 0.964 ± 0.005 | 3 2 6 9 4 5 7 | 0.953 ± 0.004 | |
Class 4 | BRCA1 (NP_009225.1) | |||
p.V1736G | 0.565 ± 0.002 | 2 8 3 7 6 | 0.953 ± 0.009 | |
p.G1738E | 0.991 ± 0.001 | 2 8 3 7 6 5 | 0.952 ± 0.007 | |
p.D1739V | 0.996 ± 0.001 | 3 2 8 6 4 | 0.963 ± 0.008 | |
p.G1748D | 0.996 ± 0.004 | 3 2 8 7 6 4 | 0.952 ± 0.001 | |
BRCA2 (NP_000050.2) | ||||
p.T2607P | 0.681 ± 0.006 | 6 5 9 2 4 | 0.820 ± 0.010 | |
p.S2670L | 0.501 ± 0.004 | 2 7 | 0.954 ± 0.009 |