Gene : COL6A2
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 : | Disease Causing |
| MutationAssessor : | Medium |
| FATHMM : | Tolerated |
| PROVEAN : | D |
| VEST3 score : | 0.636 |
| VEST3 rankscore : | 0.696 |
| MetaSVM : | Deleterious |
| MetaLR : | Deleterious |
| M-CAP : | D |
| REVEL score : | 0.544 |
| REVEL rankscore : | 0.813 |
| MutPred score : | 0.395 |
| MutPred rankscore : | 0.422 |
| CADD : | 34 |
| DANN score : | 0.999 |
| DANN rankscore : | 0.979 |
| fathmm MKL coding : | D |
| Eigen coding or noncoding : | c |
| Eigen raw : | 0.532 |
| Eigen PC raw : | 0.458 |
| GenoCanyon score : | 1 |
| GenoCanyon score rankscore : | 0.747 |
| integrated fitCons score : | 0.696 |
| integrated fitCons score rankscore : | 0.567 |
| integrated confidence value : | 0 |
| GERP++ RS : | 4.4 |
| GERP++_RS rankscore : | 0.522 |
| phyloP100way vertebrate : | 3.541 |
| phyloP100way vertebrate rankscore : | 0.531 |
| phyloP20way mammalian : | 0.892 |
| phyloP20way mammalian rankscore : | 0.403 |
| phastCons100way vertebrate : | 1 |
| phastCons100way vertebrate rankscore : | 0.715 |
| phastCons20way mammalian : | 0.315 |
| phastCons20way mammalian rankscore : | 0.24 |
| SiPhy 29way logOdds : | 16.994 |
| SiPhy 29way logOdds rankscore : | 0.862 |
IndiGen Allele Frequency
IndiGen Frequencies
- Allele Count : 1
- Allele Frequency : 0.0005
- Allele Number : 2046
- 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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