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:c.243C>G
Ensembl canonical HGVSC: NM_001256877.3:c.717C>G
Reference genome: GRCh37
Transcript ID: NM_153186
Chromosome: 9
Genomic start position: 711483
Genomic end position: 711483
Reference allele: C
Alternate allele: G
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 | 0.426,0.426,0.426 | B,B,B | 0.12 | tolerated | 0.046,0.046,0.046,0.024 | D,D,D,D | 5.5,5.5,5.5 | T,T,T | 1.89383 | 16.9 | polymorphism | simple_aae | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | No ALFA allele frequency available |