# E372K — WFS1 Molecular Atlas Card

**Variant type:** Missense
**Substitution:** Glutamic acid (E) → Lysine (K) at position 372
**Domain context:** Transmembrane helix 3

---

## AlphaMissense

- **Pathogenicity score:** 0.3326
- **Class:** likely benign

## AlphaFold confidence

- **pLDDT at residue 372:** 78.19

> **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:** Uncertain significance
- **Review status:** criteria provided, single submitter
- **Associated conditions:** Wolfram syndrome 1
- **cDNA change:** c.1114G>A
- **ClinVar accession:** VCV004532205
- **Last evaluated:** 2025/11/03 00:00
- **Submissions:** 1

---

_Card generated by `wolfram-atlas-batch` (missense AlphaMissense mint) on 2026-06-08T02:27:33.489931Z._
_AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024._