# R517H — WFS1 Molecular Atlas Card

**Variant type:** Missense
**Substitution:** Arginine (R) → Histidine (H) at position 517
**Domain context:** Transmembrane helix 7

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## AlphaMissense

- **Pathogenicity score:** 0.1344
- **Class:** likely benign

## AlphaFold confidence

- **pLDDT at residue 517:** 87.81

> **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.

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## 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.1550G>A
- **ClinVar accession:** VCV001403563
- **Last evaluated:** 2025/11/25 00:00
- **Submissions:** 1

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_Card generated by `wolfram-atlas-batch` (missense AlphaMissense mint) on 2026-06-08T02:27:33.591854Z._
_AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024._