Gene : TAAR5
Clinical Annotations and Linkouts
Clinical annotations are based on clinvar version 2019-03-05.
Computation Prediction and Annotation
| SIFT : | Deleterious |
| Polyphen2 HDIV : | Probably Damaging |
| Polyphen2 HVAR : | Probably Damaging |
| LRT : | Deleterious |
| MutationTaster : | Polymorphism |
| MutationAssessor : | Medium |
| FATHMM : | Tolerated |
| PROVEAN : | D |
| VEST3 score : | 0.376 |
| VEST3 rankscore : | 0.437 |
| MetaSVM : | Tolerated |
| MetaLR : | Tolerated |
| M-CAP : | - |
| REVEL score : | 0.228 |
| REVEL rankscore : | 0.532 |
| MutPred score : | - |
| MutPred rankscore : | - |
| CADD : | 25.4 |
| DANN score : | 0.999 |
| DANN rankscore : | 0.938 |
| fathmm MKL coding : | N |
| Eigen coding or noncoding : | c |
| Eigen raw : | 0.487 |
| Eigen PC raw : | 0.323 |
| GenoCanyon score : | 0.647 |
| GenoCanyon score rankscore : | 0.221 |
| integrated fitCons score : | 0.487 |
| integrated fitCons score rankscore : | 0.133 |
| integrated confidence value : | 0 |
| GERP++ RS : | 5.43 |
| GERP++_RS rankscore : | 0.789 |
| phyloP100way vertebrate : | 2.213 |
| phyloP100way vertebrate rankscore : | 0.422 |
| phyloP20way mammalian : | 1.194 |
| phyloP20way mammalian rankscore : | 0.916 |
| phastCons100way vertebrate : | 0.593 |
| phastCons100way vertebrate rankscore : | 0.275 |
| phastCons20way mammalian : | 0.323 |
| phastCons20way mammalian rankscore : | 0.241 |
| SiPhy 29way logOdds : | 15.656 |
| SiPhy 29way logOdds rankscore : | 0.768 |
IndiGen Allele Frequency
IndiGen Frequencies
- Allele Count : 7
- Allele Frequency : 0.0034
- Allele Number : 2052
- Homozygous : 0
- Heterozygous : 7
Global Allele Frequencies
| All | AFR | AMR | EAS | SAS | EUR | ||||
|---|---|---|---|---|---|---|---|---|---|
| 0.00359425 | - | 0.0072 | 0.001 | 0.0041 | 0.008 |
| All | AFR | AMR | EAS | SAS | AMI | ASJ | FIN | NFE | OTH |
|---|---|---|---|---|---|---|---|---|---|
| 0.0071 | 0.0024 | 0.0043 | 0 | 0.0053 | 0 | 0.0042 | 0.0041 | 0.012 | 0.0046 |
| All | NWA | NEA | AP | Israel | SD | TP | CA | ||
|---|---|---|---|---|---|---|---|---|---|
| 0.007049 | 0.005051 | 0.001359 | 0 | 0 | 0.008621 | 0.012195 | 0.022727 |
| All |
|---|
| 0.0095 |
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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