Exon/Intron Explainable Mutation Predictor

Predict SNV pathogenicity with position-level and region-level explainability.

Reference Sequence (max 99 bp)

Mutated Sequence (max 99 bp)

Chromosome

Genomic Position (1-based)

Exon flag (1 = exon)

0 1

Intron flag (1 = intron)

0 1

Results

Importance Visualisation

Example variants

Reference Sequence (max 99 bp)	Mutated Sequence (max 99 bp)	Chromosome	Genomic Position (1-based)	Exon flag (1 = exon)	Intron flag (1 = intron)

Model: Dual-output CNN trained on ClinVar SNVs (GRCh38).
Encoding: 1103-dim (99-bp window + mutation type + exon/intron flags).
Explainability: Mutation importance head + conv3 activation norms + region importance head (Linear 256 to 2).