| Population | Allele Count | Allele Number | Number of Homozygotes | Number of Heterozygotes | Homozygous Genotype Freq. | Heterozygous Genotype Freq. | Allele Frequency |
|---|---|---|---|---|---|---|---|
| Arab | 0 | 204 | 0 | 0 | 0.0 | 0.0 | 0 |
| Azeri | 0 | 200 | 0 | 0 | 0.0 | 0.0 | 0 |
| Baloch | 1 | 202 | 0 | 1 | 0.0 | 0.0099 | 0.00495 |
| Gilaki | 0 | 198 | 0 | 0 | 0.0 | 0.0 | 0 |
| Kurd | 0 | 200 | 0 | 0 | 0.0 | 0.0 | 0 |
| Lur | 0 | 200 | 0 | 0 | 0.0 | 0.0 | 0 |
| Mazani | 0 | 200 | 0 | 0 | 0.0 | 0.0 | 0 |
| Persian | 0 | 200 | 0 | 0 | 0.0 | 0.0 | 0 |
| Persian Gulf Islander | 1 | 200 | 0 | 1 | 0.0 | 0.01 | 0.005 |
| Sistani | 1 | 200 | 0 | 1 | 0.0 | 0.01 | 0.005 |
| Turkmen | 0 | 200 | 0 | 0 | 0.0 | 0.0 | 0 |
| Zartoshti | 0 | 200 | 0 | 0 | 0.0 | 0.0 | 0 |
| Total | 3 | 2404 | 0 | 3 | 0.0 | 0.0024958402662229617 | 0.001248 |
This variant falls on 7 transcripts in 1 genes:
Note: This list may not include additional transcripts in the same gene that the variant does not overlap.| Metric | Prediction |
|---|---|
| SIFT Pred (C) | Damaging |
| Polyphen2 HVAR Pred (C) | Possibly damaging |
| MutationTaster Pred (C) | Damaging |
| MutationAssessor Pred (C) | Predicted functional (medium) |
| FATHMM Pred (C) | Tolerated |
| FATHMM MKL Coding Pred (C) | Damaging |
| N of 6 Predicted Damaging | 5 of 6 Predicted as Damaging |
| N of 6 Predicted Tolerated | 1 of 6 Predicted as Tolerated |
| MetaSVM Pred | Tolerated |
| MetaLR Pred | Tolerated |
| GERP++ RS | 4.43 |
| CADD Score (Phred Scale) | 29.7 |
| Ada Score | ? |
| RF Score | ? |
| PDIVAS Score | ? |
| ConSplice Score | ? |
| REVEL Score | 0.218 |