Rohith Sriram

Frozen Protein Language Model Representations Capture Functional-Effect Signals Across Sodium-Channel Variants

Missense variants in voltage-gated sodium channel genes are associated with neurological dis-eases such as infantile epilepsy or Dravet syndrome, but most computational variant predictiontools focus on pathogenicity rather than the functional effect of the mutation. Pathogenic va...

Frozen Protein Language Model Representations Capture Functional-Effect Signals Across Sodium-Channel Variants

Missense variants in voltage-gated sodium channel genes are associated with neurological dis-eases such as infantile epilepsy or Dravet syndrome, but most computational variant predictiontools focus on pathogenicity rather than the functional effect of the mutation. Pathogenic va...