RareResearch.AI
← Back to atlas

F264S

AlphaMissense: likely benign (0.14)Uncertain significanceCytoplasmic · predicted
Phenylalanine → Serine at position 264 · N-terminal cytoplasmic (intrinsically disordered) · WFS1 (Wolframin)

Interactive 3D Structure

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

Computational Predictions

AlphaMissense
0.142
likely benign
AlphaFold pLDDT
47
model confidence
DynaMut2 ΔΔG
pending
not yet computed
ClinVar
Uncertain significance
Uncertain significance

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 classificationUncertain significance
Review statuscriteria provided, multiple submitters, no conflicts
Associated conditionsCataract 41; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome; Wolfram syndrome 1
Population frequency (gnomAD v4)Ultra-rare · AF 0.0038%
cDNA changec.791T>C
ClinVar accessionVCV002053354
Last evaluated2024/05/14 00:00

Observed at very low frequency in gnomAD.

Full Variant Card

F264S — WFS1 Molecular Atlas Card

Variant type: Missense Substitution: Phenylalanine (F) → Serine (S) at position 264 Domain context: N-terminal cytoplasmic (intrinsically disordered)

AlphaMissense

  • Pathogenicity score: 0.1419
  • Class: likely benign

AlphaFold confidence

  • pLDDT at residue 264: 47.03

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: Uncertain significance
  • Review status: criteria provided, multiple submitters, no conflicts
  • Associated conditions: Cataract 41; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome; Wolfram syndrome 1
  • cDNA change: c.791T>C
  • ClinVar accession: VCV002053354
  • Last evaluated: 2024/05/14 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (missense AlphaMissense mint) on 2026-06-08T02:27:33.423376Z. AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024.

Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the F264S 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 F264S PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.