K193Q

AlphaMissense: likely benign (0.11)Likely benignCytoplasmic · predicted

Lysine → Glutamine at position 193 · N-terminal cytoplasmic (intrinsically disordered) · WFS1 (Wolframin)

Interactive 3D Structure

Interactive structure

rotate · zoom · variant + 5 Å neighbors

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Computational Predictions

AlphaMissense

0.107

likely benign

AlphaFold pLDDT

model confidence

DynaMut2 ΔΔG

pending

not yet computed

ClinVar

Likely benign

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 classificationBenign/Likely benign

Review statuscriteria provided, multiple submitters, no conflicts

Associated conditionsMonogenic diabetes; Wolfram syndrome 1; Wolfram-like syndrome; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Cataract 41; WFS1-Related Spectrum Disorders

Population frequency (gnomAD v4)Low frequency · AF 0.371%

cDNA changec.577A>C

ClinVar accessionVCV000178654

Last evaluated2026/02/01 00:00

Observed in the general population.

Full Variant Card

K193Q — WFS1 Molecular Atlas Card

Variant type: Missense Substitution: Lysine (K) → Glutamine (Q) at position 193 Domain context: N-terminal cytoplasmic (intrinsically disordered)

AlphaMissense

Pathogenicity score: 0.1072
Class: likely benign

AlphaFold confidence

pLDDT at residue 193: 79.19

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: Benign/Likely benign
Review status: criteria provided, multiple submitters, no conflicts
Associated conditions: Monogenic diabetes; Wolfram syndrome 1; Wolfram-like syndrome; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Cataract 41; WFS1-Related Spectrum Disorders
cDNA change: c.577A>C
ClinVar accession: VCV000178654
Last evaluated: 2026/02/01 00:00
Submissions: 1

Card generated by wolfram-atlas-batch (missense AlphaMissense mint) on 2026-06-08T02:27:33.392287Z. AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024.

Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the K193Q 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 K193Q PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.