Table 2 Population frequency of Predicted pathogenic MMR variants using REVEL scores and MAPP + PolyPhen-2 prior probability.
Gene | Structural plus Null variants plus indels | REVEL | MAPP + PolyPhen-2 Priors | ||
|---|---|---|---|---|---|
Predicted pathogenic missense variants | Frequency | Predicted pathogenic missense variants | Frequency | ||
MLH1 | 26 variants in 35 people | 20 variants in 24 people | 59/121,055 = one in 2052 people | 78 variants in 117 people | 152/121,055 = one in 797 people |
MSH2 | 68 variants in 85 people (previously 29 variants in 46 people) | 26 variants in 41 people | 126/121,559 = one in 964 people | 99 variants in 159 people | 244/121,559 = one in 498 people |
MSH6 | 105 variants in 161 people | 51 variants in 76 people | 237/118,727 = one in 501 people | 97 variants in 135 people | 296/118,727 = one in 402 people |
PMS2 | 80 variants in 139 people | 14 variants in 18 people | 157/118,189 = one in 753 people | 87 variants in 149 people | 167/118,189 = one in 411 people |
Total | 279 variants in 420 people | 111 variants in 159 people | 579/119,883 = one in 207 people | 361 variants in 560 people | 980/119,883 = one in 122 people |
