The Variant Effect Prediction table provides variant annotation information, including variant consequences, predicted variant effects and variant allele frequencies. To view live NCBI ALFA allele frequencies for a particular variant, click on the ALFA Frequency link in the table.
Variant Name: NM_153186.5:c.2515G>C
Ensembl canonical HGVSC: NM_001256877.3:c.2989G>C
Reference genome: GRCh37
Transcript ID: NM_153186.5
Chromosome: 9
Genomic start position: 731250
Genomic end position: 731250
Reference allele: G
Alternate allele: C
Disease association with reference allele: False
Variant type: SNV
Gene: KANK1
| Consequence terms | Polyphen2 hvar score | Polyphen2 hvar prediction | SIFT score | SIFT prediction | SIFT4G score | SIFT4G prediction | FATHMM score | FATHMM prediction | CADD raw | CADD phred | MutationTaster effect prediction | MutationTaster query model | 1000 Genomes global allele frequency | 1000 Genomes allele frequency EUR | 1000 Genomes allele frequency AFR | 1000 Genomes allele frequency AMR | 1000 Genomes allele frequency SAS | 1000 Genomes allele frequency EAS | ExAC global allele frequency | ExAC allele frequency NFE | ExAC allele frequency AFR | ExAC allele frequency AMR | ExAC allele frequency EAS | ExAC allele frequency SAS | gnomAD global allele frequency | gnomAD allele frequency AFR | gnomAD allele frequency EAS | Live ALFA allele frequency |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| missense_variant | 0.074,0.074,0.074 | B,B,B | 0.08 | tolerated | 0.212,0.212,0.212,0.202 | T,T,T,T | 2.32,2.32,2.32 | T,T,T | 2.640768 | 22.8 | polymorphism | simple_aae | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | No ALFA allele frequency available |