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_033013.2:c.944-1G>T
Ensembl canonical HGVSC: NM_022002.3:c.1172-1G>T
Reference genome: GRCh37
Transcript ID: NM_033013.2
Chromosome: 3
Genomic start position: 119534572
Genomic end position: 119534572
Reference allele: G
Alternate allele: T
Disease association with reference allele: False
Variant type: Splicing
Gene: NR1I2
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| splice_acceptor_variant | None | None | None | None | None | None | None | None | 6.138054 | 35.0 | disease causing | without_aae | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | No ALFA allele frequency available |