PRF1: c.1000G>A p.Gly334Ser
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Interpreting the variant
Learn more about the variant
| Clinical Evidence | ClinVar | Uncertain significance (criteria provided, single submitter) |
| UniProt | - | |
| Biological Relevance | Functional residue | domain MACPF |
| Variant Information | dbSNP | rs145463632 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 0.00039 |
| gnomAD | 0.000432 |