RareResearch.AI
← Back to atlas

S784R

AlphaMissense: likely benign (0.16)Likely benignLumenal · predictedσ-1 candidate
Serine → Arginine at position 784 · C-terminal ER-lumenal (calcium binding, calmodulin, chaperone) · WFS1 (Wolframin)

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
Fullscreen ↗

Computational Predictions

AlphaMissense
0.164
likely benign
AlphaFold pLDDT
55
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 conditionsWolfram syndrome 1
Population frequency (gnomAD v4)Ultra-rare · AF 0.00066%
cDNA changec.2350A>C
ClinVar accessionVCV002442258
Last evaluated1/01/01 00:00

Observed at very low frequency in gnomAD.

Full Variant Card

S784R — WFS1 Molecular Atlas Card

Variant type: Missense Substitution: Serine (S) → Arginine (R) at position 784 Domain context: C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)

AlphaMissense

  • Pathogenicity score: 0.1639
  • Class: likely benign

AlphaFold confidence

  • pLDDT at residue 784: 54.97

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
  • Associated conditions: Wolfram syndrome 1
  • cDNA change: c.2350A>C
  • ClinVar accession: VCV002442258
  • Last evaluated: 1/01/01 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (missense AlphaMissense mint) on 2026-06-08T02:27:33.769061Z. AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024.

Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the S784R 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 S784R PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.