PRF1: c.1313A>G p.Tyr438Cys
Information from in silico tools
| Predictor | Score | Label |
|---|---|---|
| CADD v1.5 | 23.8 | Deleterious |
| PolyPhen-2 | 1.0 | Probably damaging |
| PON-P2 | 0.946 | Pathogenic |
| SIFT | 0.0 | Damaging |
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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 C2 |
| Variant Information | dbSNP | rs752523287 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 8e-06 |
| gnomAD | 4e-06 |