|
INDEX ALL |
INDEX Male |
INDEX Female |
INDEX Controls |
Allele Count |
17 |
8 |
9 |
17 |
Allele Number |
350 |
202 |
148 |
350 |
Allele Frequency |
0.04857 |
0.03960 |
0.06081 |
0.04857 |
Number of Homozygotes |
0 |
0 |
0 |
0 |
Region: exonic
Annotation: nonsynonymous_SNV
Consequence: ['c.G244A', 'p.E82K']
Average Genotype Quality in variant carriers: 77.71
Average Depth at the site in variant carriers: 57.47
Browse the variant in INDEX-db genome browser
|
Score |
Prediction |
SIFT |
0.024 |
D |
Polyphen2 HDIV |
1.0 |
D |
Polyphen2 HVAR |
0.999 |
D |
Mutation Taster |
1 |
D |
Mutation Assessor |
2.19 |
M |
LRT |
0.000 |
D |
FATHMM |
0.88 |
T |
CADD Phred |
32 |
. |
CADD Raw |
6.690 |
. |
|
Allele Frequency |
ExAC ALL |
0.4277 |
ExAC SAS |
0.4696 |
ExAC AFR |
0.4136 |
ExAC AMR |
0.4487 |
ExAC EAS |
0.4021 |
ExAC FIN |
0.4560 |
ExAC NFE |
0.4161 |
ExAC OTH |
0.4291 |
1000 Genomes |
None |