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I720L

AlphaMissense: likely benign (0.25)Likely benignLumenal · predictedσ-1 candidate
Isoleucine → Leucine at position 720 · C-terminal ER-lumenal (calcium binding, calmodulin, chaperone) · WFS1 (Wolframin)

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
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Computational Predictions

AlphaMissense
0.246
likely benign
AlphaFold pLDDT
85
model confidence
DynaMut2 ΔΔG
pending
not yet computed
ClinVar
Likely benign
Likely benign

AlphaMissense + AlphaFold card. This variant is mapped from AlphaMissense pathogenicity and AlphaFold confidence. The DynaMut2 ΔΔG stability prediction and the wild-type/mutant structural comparison (dual-pane + bond network) are computed per-variant and backfill here — they require a DynaMut2 submission, unlike the precomputed AlphaMissense score.

Clinical Evidence

ClinVar classificationLikely benign
Review statuscriteria provided, single submitter
Associated conditions—
Population frequency (gnomAD v4)Ultra-rare · AF 0.0055%
cDNA changec.2158A>C
ClinVar accessionVCV004805671
Last evaluated2026/01/17 00:00

Observed at very low frequency in gnomAD.

Full Variant Card

I720L — WFS1 Molecular Atlas Card

Variant type: Missense Substitution: Isoleucine (I) → Leucine (L) at position 720 Domain context: C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)

AlphaMissense

  • Pathogenicity score: 0.2457
  • Class: likely benign

AlphaFold confidence

  • pLDDT at residue 720: 84.69

DynaMut2 ΔΔG: not yet computed for this variant — AlphaMissense + AlphaFold confidence shown above. Stability ΔΔG and the wild-type/mutant structural comparison backfill behind this note.

Clinical evidence

  • Classification: Likely benign
  • Review status: criteria provided, single submitter
  • cDNA change: c.2158A>C
  • ClinVar accession: VCV004805671
  • Last evaluated: 2026/01/17 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (missense AlphaMissense mint) on 2026-06-08T02:27:33.724923Z. AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024.

Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the I720L PDF below and upload it to Wolfram Intelligence to generate therapeutic-strategy proposals — guanidinium mimetics, sigma-1 agonist docking, NAC thiol-capping. NAC is already on the bench-testing list.

Download I720L PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.