Pirepred
Interpretation tool for neonatal screened genetic variants
Missense, nonsense and frameshift single nucleotide variants (SNVs) annotated in the ClinVar database are retrieved in real time and presented in the structural context of the original protein. For each variant, binary classifications (tolerated/deleterious) obtained from 15 popular predictors are shown, together with a consensus ternary classification (tolerated/uncertain/deleterious). Predictions for any single amino acid replacement arising from SNVs are also shown.
