DynaMut2 Result · RareResearch.AI Molecular Atlas
WFS1 A48V — Predicted Stability Change
Computed on AlphaFold AF-O76024-F1 v6 · Job ID 177985960542 · Biosig Lab, University of Queensland / Melbourne
ΔΔG (Stability Change)
-0.75kcal/mol
Destabilising — but value is NOT trustworthy (see warning below)
Interpretation warning. Position 48 sits in wolframin's N-terminal intrinsically disordered region (pLDDT 25.08, below the 50 threshold). DynaMut2 assumes a meaningful input structure; for IDR residues that assumption is violated. The ΔΔG value above should NOT be used to make clinical or therapeutic decisions about this variant. The Atlas correctly routes A48V to Category 5 — experimental wet-lab validation only.
Mutation Details
- Chain
- A
- Position
- 48
- Wild-type
- A (Alanine)
- Mutant
- V (Valine)
- Region
- N-terminal intrinsically disordered region (1-86)
Mechanistic Interpretation
This DynaMut2 result is NOT clinically trustworthy. The starting AlphaFold structure at position 48 has pLDDT 25.08 — below the IDR threshold of 50. DynaMut2 assumes a meaningful input structure; for IDR residues, that assumption is violated. Route this variant to wet-lab functional validation.