Gene : DNAH5
Clinical Annotations and Linkouts
Clinical annotations are based on clinvar version 2019-03-05.
Computation Prediction and Annotation
| SIFT : | Tolerated |
| Polyphen2 HDIV : | Benign |
| Polyphen2 HVAR : | Benign |
| LRT : | Neutral |
| MutationTaster : | Polymorphism |
| MutationAssessor : | Medium |
| FATHMM : | Tolerated |
| PROVEAN : | D |
| VEST3 score : | 0.58 |
| VEST3 rankscore : | 0.61 |
| MetaSVM : | Tolerated |
| MetaLR : | Tolerated |
| M-CAP : | D |
| REVEL score : | 0.272 |
| REVEL rankscore : | 0.592 |
| MutPred score : | 0.743 |
| MutPred rankscore : | 0.875 |
| CADD : | 17 |
| DANN score : | 0.749 |
| DANN rankscore : | 0.105 |
| fathmm MKL coding : | D |
| Eigen coding or noncoding : | c |
| Eigen raw : | -0.306 |
| Eigen PC raw : | -0.225 |
| GenoCanyon score : | 1 |
| GenoCanyon score rankscore : | 0.747 |
| integrated fitCons score : | 0.554 |
| integrated fitCons score rankscore : | 0.246 |
| integrated confidence value : | 0 |
| GERP++ RS : | 4.67 |
| GERP++_RS rankscore : | 0.579 |
| phyloP100way vertebrate : | 5.379 |
| phyloP100way vertebrate rankscore : | 0.657 |
| phyloP20way mammalian : | 0.998 |
| phyloP20way mammalian rankscore : | 0.613 |
| phastCons100way vertebrate : | 0.999 |
| phastCons100way vertebrate rankscore : | 0.424 |
| phastCons20way mammalian : | 0.005 |
| phastCons20way mammalian rankscore : | 0.09 |
| SiPhy 29way logOdds : | 14.668 |
| SiPhy 29way logOdds rankscore : | 0.684 |
IndiGen Allele Frequency
IndiGen Frequencies
- Allele Count : 2
- Allele Frequency : 0.0010
- Allele Number : 2048
- Homozygous : 0
- Heterozygous : 2
Global Allele Frequencies
| All | AFR | AMR | EAS | SAS | EUR | ||||
|---|---|---|---|---|---|---|---|---|---|
| - | - | - | - | - | - |
| All | AFR | AMR | EAS | SAS | AMI | ASJ | FIN | NFE | OTH |
|---|---|---|---|---|---|---|---|---|---|
| - | - | - | - | - | - | - | - | - | - |
| All | NWA | NEA | AP | Israel | SD | TP | CA | ||
|---|---|---|---|---|---|---|---|---|---|
| - | - | - | - | - | - | - | - |
| All |
|---|
| - |
Update on Clinical Annotations
If you would like to be updated on the classification of the variant as per the ACMG & AMP guidelines, please access and share the phenotypes after login.
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