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L804=

SynonymousSilentLikely benignLumenal · predicted
Synonymous variant · codon at position 804 · C-terminal ER-lumenal (calcium binding, calmodulin, chaperone) · 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 804 (C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — no amino-acid change
Domain
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Status
—

Therapeutic Implication · Silent

No amino-acid change (L804 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 classificationLikely benign
Review statusno assertion criteria provided
Associated conditionsWFS1-related disorder
Population frequency (gnomAD v4)Ultra-rare · AF 0.00048%
cDNA changec.2410C>T
Protein consequenceL804=
ClinVar variantNM_006005.3(WFS1):c.2410C>T (p.Leu804=)
ClinVar accessionVCV003349067
Last evaluated2024/03/13 00:00

Observed at very low frequency in gnomAD.

Therapeutic Strategy Handoff · prediction

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Full Variant Card

L804= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 804 (Leucine, L) — amino acid unchanged Domain context: C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)

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

No amino-acid change (L804 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: Likely benign
  • Review status: no assertion criteria provided
  • Associated conditions: WFS1-related disorder
  • cDNA change: c.2410C>T
  • ClinVar accession: VCV003349067
  • Last evaluated: 2024/03/13 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:56:25.597021Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.