Gene : ECEL1
Clinical Annotations and Linkouts
Clinical annotations are based on clinvar version 2019-03-05.
Computation Prediction and Annotation
| SIFT : | - |
| Polyphen2 HDIV : | - |
| Polyphen2 HVAR : | - |
| LRT : | - |
| MutationTaster : | Disease Causing |
| MutationAssessor : | - |
| FATHMM : | - |
| PROVEAN : | - |
| VEST3 score : | - |
| VEST3 rankscore : | - |
| MetaSVM : | - |
| MetaLR : | - |
| M-CAP : | - |
| REVEL score : | - |
| REVEL rankscore : | - |
| MutPred score : | - |
| MutPred rankscore : | - |
| CADD : | 24.1 |
| DANN score : | 0.993 |
| DANN rankscore : | 0.577 |
| fathmm MKL coding : | D |
| Eigen coding or noncoding : | c |
| Eigen raw : | 0.966 |
| Eigen PC raw : | 0.777 |
| GenoCanyon score : | 1 |
| GenoCanyon score rankscore : | 0.747 |
| integrated fitCons score : | 0.056 |
| integrated fitCons score rankscore : | 0.006 |
| integrated confidence value : | 0 |
| GERP++ RS : | 4.87 |
| GERP++_RS rankscore : | 0.627 |
| phyloP100way vertebrate : | 7.854 |
| phyloP100way vertebrate rankscore : | 0.852 |
| phyloP20way mammalian : | 0.875 |
| phyloP20way mammalian rankscore : | 0.382 |
| phastCons100way vertebrate : | 1 |
| phastCons100way vertebrate rankscore : | 0.715 |
| phastCons20way mammalian : | 0.962 |
| phastCons20way mammalian rankscore : | 0.444 |
| SiPhy 29way logOdds : | 18.06 |
| SiPhy 29way logOdds rankscore : | 0.893 |
IndiGen Allele Frequency
IndiGen Frequencies
- Allele Count : 1
- Allele Frequency : 0.0005
- Allele Number : 2040
- Homozygous : 0
- Heterozygous : 1
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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