Population |
Allele Count |
Allele Number |
Number of Homozygotes |
Number of Heterozygotes |
Homozygous Genotype Freq. |
Heterozygous Genotype Freq. |
Allele Frequency |
---|---|---|---|---|---|---|---|
Kurd | 4 | 200 | 0 | 4 | 0.0 | 0.04 | 0.02 |
Baloch | 4 | 202 | 0 | 4 | 0.0 | 0.0396 | 0.0198 |
Lur | 3 | 200 | 0 | 3 | 0.0 | 0.03 | 0.015 |
Persian | 3 | 200 | 1 | 1 | 0.01 | 0.01 | 0.015 |
Persian Gulf Islander | 3 | 200 | 0 | 3 | 0.0 | 0.03 | 0.015 |
Sistani | 3 | 200 | 0 | 3 | 0.0 | 0.03 | 0.015 |
Turkmen | 3 | 200 | 0 | 3 | 0.0 | 0.03 | 0.015 |
Azeri | 1 | 200 | 0 | 1 | 0.0 | 0.01 | 0.005 |
Mazani | 1 | 200 | 0 | 1 | 0.0 | 0.01 | 0.005 |
Arab | 1 | 204 | 0 | 1 | 0.0 | 0.0098 | 0.004902 |
Gilaki | 0 | 198 | 0 | 0 | 0.0 | 0.0 | 0 |
Zartoshti | 0 | 200 | 0 | 0 | 0.0 | 0.0 | 0 |
Total | 26 | 2404 | 1 | 24 | 0.0008319467554076539 | 0.019966722129783693 | 0.01082 |
This variant falls on 8 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) | Tolerated |
Polyphen2 HVAR Pred (C) | Benign |
MutationTaster Pred (C) | Damaging |
MutationAssessor Pred (C) | Predicted non-functional (neutral) |
FATHMM Pred (C) | Tolerated |
FATHMM MKL Coding Pred (C) | Tolerated |
N of 6 Predicted Damaging | 1 of 6 Predicted as Damaging |
N of 6 Predicted Tolerated | 5 of 6 Predicted as Tolerated |
MetaSVM Pred | Tolerated |
MetaLR Pred | Tolerated |
GERP++ RS | 4.55 |
CADD Score (Phred Scale) | 0.991 |
Ada Score | ? |
RF Score | ? |
PDIVAS Score | ? |
ConSplice Score | ? |
REVEL Score | 0.14,0.105 |