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: rs2043211
Ensembl canonical HGVSC: NM_001184900.3:c.304T>A
Reference genome: GRCh38
Transcript ID: NC_000019.10
Chromosome: 19
Genomic start position: 48234449
Genomic end position: 48234449
Reference allele: A
Alternate allele: T
Disease association with reference allele: False
Variant type: SNV
Gene: CARD8
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| stop_gained | 0.05,0.05, | B,B, | 0.19 | tolerated | 0.0,0.0,0.0,0.0,0.0,0.0,0.0 | D,D,D,D,D,D,D | 2.43,2.53,2.15,2.53,2.15,2.53,2.43 | T,T,T,T,T,T,T | -0.25106 | 0.396 | polymorphism (auto) | 5utr | 0.316494 | 0.332008 | 0.180787 | 0.270893 | 0.320041 | 0.506944 | 0.3264 | 0.1997 | 0.2499 | 0.4986 | 0.3295 | 0.3423 | 0.298169 | 0.206297 | 0.494004 | ALFA Frequency |