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: rs552094593
Ensembl canonical HGVSC: NM_000158.4:c.1693C>T
Reference genome: GRCh38
Transcript ID: NC_000003.12
Chromosome: 3
Genomic start position: 81537021
Genomic end position: 81537021
Reference allele: G
Alternate allele: A
Disease association with reference allele: False
Variant type: SNV
Gene: GBE1
| 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 | None | None | 0.0 | deleterious | 0.0,0.0 | D,D | -5.01,-5.01 | D,D | 3.645763 | 25.2 | disease causing (ClinVar) | simple_aae | None | None | None | None | None | None | 8.611e-06 | 0.0 | 0.0 | 0.0 | 1.557e-05 | 0.0 | 1.31622e-05 | 4.83022e-05 | 0.0 | ALFA Frequency |