|
Gene
|
Classification method
|
Level
|
Number of variants
|
Grantham matrix score
|
|---|
| | | | |
Mean
|
Standard deviation
|
Minimum
|
Maximum
|
|---|
|
BRCA1
|
Allele frequency
|
Low risk (HFUV)
|
5
|
38.2
|
20.7
|
10
|
56
|
| | |
High risk (LFUV)
|
39
|
69.7
|
45.0
|
10
|
194
|
| | |
P value (t test)
| |
0.13
| | | |
| |
Polyphen
|
Benign missense
|
28
|
55.0
|
42.3
|
10
|
180
|
| | |
Possible damaging
|
9
|
65.3
|
29.4
|
10
|
101
|
| | |
Probably damaging
|
7
|
111.9
|
40.5
|
71
|
194
|
| | |
P for trenda
| |
0.002
| | | |
| |
Sequence conservation
|
Low
|
14
|
53.6
|
44.7
|
10
|
180
|
| | |
Moderate
|
14
|
70.9
|
43.5
|
10
|
154
|
| | |
High
|
16
|
73.0
|
44.2
|
10
|
194
|
| | |
P for trenda
| |
0.24
| | | |
|
BRCA2
|
Allele frequency
|
Low risk (HFUV)
|
18
|
67.7
|
39.7
|
5
|
149
|
| | |
High risk (LFUV)
|
77
|
87.0
|
52.9
|
10
|
205
|
| | |
P value (t test)
| |
0.15
| | | |
| |
Polyphen
|
Benign missense
|
44
|
58.1
|
41.3
|
5
|
194
|
| | |
Possible-damaging
|
25
|
91.4
|
41.7
|
21
|
180
|
| | |
Probably-damaging
|
26
|
118.3
|
52.3
|
27
|
205
|
| | |
P for trenda
| |
<0.001
| | | |
| |
Sequence conservation
|
Low
|
33
|
71.5
|
49.4
|
10
|
194
|
| | |
Moderate
|
29
|
92.1
|
55.6
|
5
|
205
|
| | |
High
|
33
|
87.5
|
47.8
|
21
|
194
|
| | |
P for trenda
| |
0.20
| | | |
- LFUV, low-frequency unclassified variant; HFUV, high-frequency unclassified variant. aBased on the F test in a linear regression model.
