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Q224=

SynonymousSilentConflictingCytoplasmic · predicted
Synonymous variant · codon at position 224 · N-terminal cytoplasmic (intrinsically disordered) · WFS1 (Wolframin)

Silent — Silent — no amino-acid change

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
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AlphaFold wild-type wolframin · the variant site near residue 224 (N-terminal cytoplasmic (intrinsically disordered)) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — no amino-acid change
Domain
N-terminal cytoplasmic (intrinsically disordered)
Status
—

Therapeutic Implication · Silent

No amino-acid change (Q224 is unchanged): the codon is altered but the protein sequence is identical to wild-type. No structural, stability or AlphaMissense effect applies. Synonymous variants are typically benign unless they affect splicing or regulatory elements; this one is not adjacent to an exon boundary.

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditions—
Population frequency (gnomAD v4)Absent from gnomAD v4
cDNA changec.672G>A
Protein consequenceQ224=
ClinVar variantNM_006005.3(WFS1):c.672G>A (p.Gln224=)
ClinVar accessionVCV001217584
Last evaluated2025/07/29 00:00

Not observed in ~730k individuals — consistent with a rare allele (ACMG PM2_supporting).

Therapeutic Strategy Handoff · prediction

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Full Variant Card

Q224= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 224 (Glutamine, Q) — amino acid unchanged Domain context: N-terminal cytoplasmic (intrinsically disordered)

Schema category: Silent — Silent — no amino-acid change

No amino-acid change (Q224 is unchanged): the codon is altered but the protein sequence is identical to wild-type. No structural, stability or AlphaMissense effect applies. Synonymous variants are typically benign unless they affect splicing or regulatory elements; this one is not adjacent to an exon boundary.

Clinical evidence

  • Classification: Conflicting classifications of pathogenicity
  • Review status: criteria provided, conflicting classifications
  • cDNA change: c.672G>A
  • ClinVar accession: VCV001217584
  • Last evaluated: 2025/07/29 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:51:36.747944Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.