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_001303110.1:c.136G>A
Ensembl canonical HGVSC: NM_001845.6:c.136G>A
Reference genome: GRCh37
Transcript ID: NM_001303110.1
Chromosome: 13
Genomic start position: 110895030
Genomic end position: 110895030
Reference allele: C
Alternate allele: T
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 | 0.936 | D | 0.0 | deleterious | 0.002,0.003, | D,D, | -5.77,-5.53, | D,D, | 3.838978 | 26.0 | polymorphism | simple_aae | None | None | None | None | None | None | 8.239e-06 | 9.615e-05 | 0.0 | 0.0 | 0.0 | 0.0 | 1.97106e-05 | 2.41e-05 | 0.0 | No ALFA allele frequency available |