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_153638.3:c.1412+1G>C
Ensembl canonical HGVSC: NM_153638.4:c.1412+1G>C
Reference genome: GRCh37
Transcript ID: NM_153638.3
Chromosome: 20
Genomic start position: 3893282
Genomic end position: 3893282
Reference allele: G
Alternate allele: C
Disease association with reference allele: False
Variant type: SNV
Gene: PANK2
| 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_donor_variant | None | None | None | None | None | None | None | None | 6.285684 | 35.0 | disease causing | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | None | No ALFA allele frequency available |