Gene : ABCD1
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 : | Neutral |
| FATHMM : | Deleterious |
| PROVEAN : | N |
| VEST3 score : | 0.126 |
| VEST3 rankscore : | 0.143 |
| MetaSVM : | Tolerated |
| MetaLR : | Deleterious |
| M-CAP : | D |
| REVEL score : | 0.159 |
| REVEL rankscore : | 0.418 |
| MutPred score : | 0.219 |
| MutPred rankscore : | 0.141 |
| CADD : | 10.96 |
| DANN score : | 0.99 |
| DANN rankscore : | 0.497 |
| fathmm MKL coding : | N |
| Eigen coding or noncoding : | - |
| Eigen raw : | - |
| Eigen PC raw : | - |
| GenoCanyon score : | 1 |
| GenoCanyon score rankscore : | 0.747 |
| integrated fitCons score : | - |
| integrated fitCons score rankscore : | - |
| integrated confidence value : | - |
| GERP++ RS : | 2.7 |
| GERP++_RS rankscore : | 0.309 |
| phyloP100way vertebrate : | 1.731 |
| phyloP100way vertebrate rankscore : | 0.375 |
| phyloP20way mammalian : | 0.853 |
| phyloP20way mammalian rankscore : | 0.373 |
| phastCons100way vertebrate : | 0.018 |
| phastCons100way vertebrate rankscore : | 0.193 |
| phastCons20way mammalian : | 0.104 |
| phastCons20way mammalian rankscore : | 0.19 |
| SiPhy 29way logOdds : | 7.649 |
| SiPhy 29way logOdds rankscore : | 0.273 |
IndiGen Allele Frequency
IndiGen Frequencies
- Allele Count : 3
- Allele Frequency : 0.0015
- Allele Number : 2024
- Homozygous : 1
- Heterozygous : 1
Global Allele Frequencies
| All | AFR | AMR | EAS | SAS | EUR | ||||
|---|---|---|---|---|---|---|---|---|---|
| 0.000264901 | - | - | - | 0.0014 | - |
| 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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