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A460V

AlphaMissense: likely benign (0.05)Likely benignTransmembrane · predicted
Alanine → Valine at position 460 · Cytoplasmic loop 3 · WFS1 (Wolframin)

Interactive 3D Structure

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

AlphaMissense
0.054
likely benign
AlphaFold pLDDT
86
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 conditionsInborn genetic diseases
Population frequency (gnomAD v4)Ultra-rare · AF 0.00012%
cDNA changec.1379C>T
ClinVar accessionVCV003190518
Last evaluated2024/01/24 00:00

Observed at very low frequency in gnomAD.

Full Variant Card

A460V — WFS1 Molecular Atlas Card

Variant type: Missense Substitution: Alanine (A) → Valine (V) at position 460 Domain context: Cytoplasmic loop 3

AlphaMissense

  • Pathogenicity score: 0.0538
  • Class: likely benign

AlphaFold confidence

  • pLDDT at residue 460: 86.38

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: Inborn genetic diseases
  • cDNA change: c.1379C>T
  • ClinVar accession: VCV003190518
  • Last evaluated: 2024/01/24 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (missense AlphaMissense mint) on 2026-06-08T02:27:33.549285Z. AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024.

Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the A460V 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 A460V PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.