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_001276337.1:c.277C>T
Ensembl canonical HGVSC: NM_004846.4:c.412C>T
Reference genome: GRCh37
Transcript ID: NM_001276337.1
Chromosome: 2
Genomic start position: 233431575
Genomic end position: 233431575
Reference allele: C
Alternate allele: T
Disease association with reference allele: False
Variant type: SNV
Gene: EIF4E2
| 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 | 0.075,0.171 | B,B | 0.06 | tolerated | 0.026,0.017,0.017,0.022,0.026,0.031,0.02,0.019 | D,D,D,D,D,D,D,D | 0.77,0.77,0.77,0.77,0.77,0.77,0.77,0.77 | T,T,T,T,T,T,T,T | 3.565274 | 24.4 | disease causing | simple_aae | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | No ALFA allele frequency available |