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_001080463:c.G5158A
Ensembl canonical HGVSC: NM_001080463.2:c.5158G>A
Reference genome: GRCh37
Transcript ID: NM_001080463
Chromosome: 11
Genomic start position: 103041621
Genomic end position: 103041621
Reference allele: G
Alternate allele: A
Disease association with reference allele: False
Variant type: SNV
Gene: DYNC2H1
| 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 | 1.0,1.0,1.0,1.0 | D,D,D,D | 0.0 | deleterious | 0.0,0.0 | D,D | 2.47,2.47 | T,T | 4.249562 | 31.0 | disease causing | simple_aae | None | None | None | None | None | None | 3.135e-05 | 0.0 | 0.0 | 0.0 | 5.524e-05 | 0.0 | 6.57531e-05 | 0.000169 | 0.0 | No ALFA allele frequency available |