Variant: 1:2430250 G / A

Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.

Population Frequencies

Population	Allele Count	Allele Number	Number of Heterozygotes	Homozygous Genotype Freq.	Heterozygous Genotype Freq.	Allele Frequency
Arab	1	204	1	0.0	0.0098	0.004902
Azeri	0	200	0	0.0	0.0	0
Baloch	0	202	0	0.0	0.0	0
Gilaki	0	198	0	0.0	0.0	0
Kurd	4	200	4	0.0	0.04	0.02
Lur	0	200	0	0.0	0.0	0
Mazani	0	200	0	0.0	0.0	0
Persian	0	200	0	0.0	0.0	0
Persian Gulf Islander	0	200	0	0.0	0.0	0
Sistani	0	200	0	0.0	0.0	0
Turkmen	0	200	0	0.0	0.0	0
Zartoshti	0	200	0	0.0	0.0	0
Total	5	2404	5	0.0	0.004159733777038269	0.00208

Annotations

This variant falls on 9 transcripts in 1 genes:

Note: This list may not include additional transcripts in the same gene that the variant does not overlap.

Additional Annotations

Metric	Prediction
SIFT Pred (C)	Damaging
Polyphen2 HVAR Pred (C)	Probably damaging
MutationTaster Pred (C)	Damaging
MutationAssessor Pred (C)	Predicted non-functional (low)
FATHMM Pred (C)	Tolerated
FATHMM MKL Coding Pred (C)	Damaging
N of 6 Predicted Damaging	4 of 6 Predicted as Damaging
N of 6 Predicted Tolerated	2 of 6 Predicted as Tolerated
MetaSVM Pred	Damaging
MetaLR Pred	Tolerated
GERP++ RS	4.93
CADD Score (Phred Scale)	27.8
Ada Score	?
RF Score	?
PDIVAS Score	?
ConSplice Score	?
REVEL Score	0.142,0.709

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above