What is NeoVar predictor?
NeoVar predictor is a tool to predict the functional significance of nonsynonymous variants of more than 50 proteins involved in neonatal diseases from the Clinical and Translational Bioinformatics research group at Vall d'Hebron Institute of Research.
How can I predict my variant?
You can submit your variant in our query page indicating the native amino acid, the residue and the mutated amino acid. Afterwards, you will be redirect to the prediction page.
Why is my variant not accepted?
We use as a reference the database UniProt, a comprehensive, high-quality and freely accessible resource of protein sequence and functional information. In particular, we use the most prevalent isoform, the canonical isoform. So, if you are using another isoform or another database for protein sequence reference such as NCBI or Ensembl, you can find some small diferences.
Which metrics has a prediction?
How are these predictions calculated?
Collect the pathogenic and neutral variants of the proteins
Gather the predictions of the variants for each predictor
Estimate the performance for each predictor
Select the best predictor per protein
Which is the performance of NeoVar predictor?
The NeoVar predictor have been evaluated and compared to the state of the art predictors. The Matthews Correlation Coefficient (MCC) per gene and predictor is:
In mean, the performance metrics per predictor are:
Can I download all the predictions for my protein?
You can download all the pre-calculated predictions to make your own queries. The file is in csv format containing the following columns:
|1||Gene||HGNC official gene symbol|
|2||Protein||Uniprot accession number|
|3||Variant||Nonsynonymous variant from the canonical isoform|
|4||Prediction||Predicted functional consequence of the variant|
|5||Score||Numerical score of the pathogenic prediction|