H322Y
AlphaMissense: likely benign (0.28)Uncertain significanceTransmembrane · predictedInteractive 3D Structure
Computational Predictions
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
Observed at very low frequency in gnomAD.
Full Variant Card
H322Y — WFS1 Molecular Atlas Card
Variant type: Missense Substitution: Histidine (H) → Tyrosine (Y) at position 322 Domain context: Transmembrane helix 1
AlphaMissense
- Pathogenicity score: 0.2791
- Class: likely benign
AlphaFold confidence
- pLDDT at residue 322: 76.0
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, single submitter
- Associated conditions: Inborn genetic diseases
- cDNA change: c.964C>T
- ClinVar accession: VCV004201396
- Last evaluated: 2025/09/11 00:00
- Submissions: 1
Card generated by wolfram-atlas-batch (missense AlphaMissense mint) on 2026-06-08T02:27:33.457183Z.
AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024.
Feed this card to Wolfram Intelligence
Download the H322Y 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.