Step 1 — Enter your missense variant in the following format:
chr:pos:ref:alt (chr15:63060899:G:A)
Step 2 — Review outputs
a ranked table of transcript–-tissue scores for your variant
interactive heat and line plots showing score patterns across tissues
downloadable results for downstream analysis and reporting
Typical outputs include:
IsoPath: calibrated posterior probability of pathogenicity derived from MutPred2
Ptse: tissue specificity probability for a transcript (softmax-transformed across tissues)
exTSP score: tissue-aware score combining IsoPath and tissue specificity for each transcript–tissue pair
transcript identifiers, amino-acid change, and annotation metadata (as available)
exTSP is designed to support variant prioritization, not to replace clinical classification.
General guidance:
High exTSP in a disease-relevant tissue suggests the variant likely impacts a transcript actively used in that tissue and may warrant functional follow-up.
High IsoPath but low exTSP in the relevant tissue may indicate that predicted functional impact is not aligned with tissue-specific isoform usage.
Transcript resolution matters: exTSP may prioritize a non-default isoform (sometimes not the MANE transcript) if that isoform is preferentially expressed in the relevant tissue.
Recommended use cases:
triaging missense variants from sequencing studies
selecting transcript for experimental assays
adding transcript- and tissue-level evidence for VUS evaluation
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