UNC13D: c.869C>T p.Ser290Leu
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Interpreting the variant
Learn more about the variant
| Clinical Evidence | ClinVar | - |
| UniProt | - | |
| Biological Relevance | Functional residue | Interaction with RAB27A |
| Variant Information | dbSNP | rs202020396 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 7.9e-05 |
| gnomAD | 6.5e-05 |