L554V
AlphaMissense: likely benign (0.11)Uncertain significanceCytoplasmic · 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
Not observed in ~730k individuals — consistent with a rare allele (ACMG PM2_supporting).
Full Variant Card
L554V — WFS1 Molecular Atlas Card
Variant type: Missense Substitution: Leucine (L) → Valine (V) at position 554 Domain context: Lumenal loop 4
AlphaMissense
- Pathogenicity score: 0.1103
- Class: likely benign
AlphaFold confidence
- pLDDT at residue 554: 84.5
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
- cDNA change: c.1660C>G
- ClinVar accession: VCV002663735
- Last evaluated: 2025/04/11 00:00
- Submissions: 1
Card generated by wolfram-atlas-batch (missense AlphaMissense mint) on 2026-06-08T02:27:33.618367Z.
AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024.
Feed this card to Wolfram Intelligence
Download the L554V 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.