UNC13D: c.1820G>C p.Arg607Pro
Information from in silico tools
| Predictor | Score | Label |
|---|---|---|
| CADD v1.5 | 34.0 | Deleterious |
| PolyPhen-2 | 0.977 | Probably damaging |
| PON-P2 | 0.897 | Pathogenic |
| SIFT | 0.002 | Damaging |
Disclaimer The information on this database is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. The authors are not responsible for neither its use nor misuse. The authors have worked with care in the development of this server, but assume no liability or responsibility for any error, weakness, incompleteness or temporariness of the resource and of the data provided.
Interpreting the variant
Learn more about the variant
| Clinical Evidence | ClinVar | Uncertain significance (criteria provided, single submitter) |
| UniProt | - | |
| Biological Relevance | Functional residue | domain MHD1 |
| Variant Information | dbSNP | rs377293829 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 0.00011 |
| gnomAD | 0.000108 |