# L467V — WFS1 Molecular Atlas Card

**Variant type:** Missense
**Substitution:** Leucine (L) → Valine (V) at position 467
**Domain context:** Transmembrane helix 6

---

## AlphaMissense

- **Pathogenicity score:** 0.0921
- **Class:** likely benign

## AlphaFold confidence

- **pLDDT at residue 467:** 78.12

> **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:** Autosomal dominant nonsyndromic hearing loss 6; Wolfram-like syndrome; Cataract 41; Type 2 diabetes mellitus; Wolfram syndrome 1
- **cDNA change:** c.1399C>G
- **ClinVar accession:** VCV003590692
- **Last evaluated:** 2025/12/01 00:00
- **Submissions:** 1

---

_Card generated by `wolfram-atlas-batch` (missense AlphaMissense mint) on 2026-06-08T02:27:33.557140Z._
_AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024._