Missense variant mechanism
Predict whether a missense variant is loss-of-function, gain-of-function, or neutral, using a classifier trained on GLOF (direction AUROC ~0.76 on held-out genes; mechanism prediction is hard, see the paper).
Score a variant
Enter a gene symbol and a protein substitution, or paste a sequence.
Examples:
Batch lookup from a VCF
Upload a VCF (GRCh38) to look its variants up against the GLOF expert benchmark by genomic coordinate. Matched variants return their curated LOF/GOF/NEUTRAL label. (Novel genomic variants are not classified here: that needs genomic→protein annotation; use the gene or sequence input above for those.)
Zero-shot foundation-model likelihoods predict pathogenicity but not direction; this tool uses the supervised classifier that does, trained and evaluated on the GLOF benchmark. See the JENNIE repo.