STXBP2: c.1214G>A p.Arg405Gln
Information from in silico tools
| Predictor | Score | Label |
|---|---|---|
| CADD v1.5 | 26.0 | Deleterious |
| PolyPhen-2 | 1.0 | Probably damaging |
| PON-P2 | nan | |
| SIFT | 0.001 | Damaging |
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Interpreting the variant
Learn more about the variant
| Clinical Evidence | ClinVar | Pathogenic (criteria provided, single submitter) |
| UniProt | Disease | |
| Biological Relevance | Functional residue | - |
| Variant Information | dbSNP | rs773360200 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 1.7e-05 |
| gnomAD | 1.6e-05 |