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_001845.6:c.2447C>T
Ensembl canonical HGVSC: NM_001845.6:c.2447C>T
Reference genome: GRCh37
Transcript ID: NM_001845.6
Chromosome: 13
Genomic start position: 110831281
Genomic end position: 110831281
Reference allele: G
Alternate allele: A
Disease association with reference allele: False
Variant type: SNV
Gene: COL4A1
| 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 | 0.993 | D | 0.01 | deleterious | 0.04 | D | -4.09 | D | 3.562291 | 25.2 | polymorphism | simple_aae | None | None | None | None | None | None | 7.772e-05 | 0.0 | 0.0 | 0.0 | 0.0001419 | 0.0 | 8.54757e-05 | 4.83e-05 | 0.0 | No ALFA allele frequency available |