RareResearch.AI
← Back to atlas

S38=

SynonymousSilentConflictingCytoplasmic · predicted
Synonymous variant · codon at position 38 · N-terminal cytoplasmic (intrinsically disordered) · WFS1 (Wolframin)

Silent — Silent — no amino-acid change

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
Fullscreen ↗

AlphaFold wild-type wolframin · the variant site near residue 38 (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 (S38 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 conditionsWFS1-Related Spectrum Disorders; Autosomal dominant nonsyndromic hearing loss 6; Wolfram syndrome 1
Population frequency (gnomAD v4)Low frequency · AF 0.013%
cDNA changec.114C>T
Protein consequenceS38=
ClinVar variantNM_006005.3(WFS1):c.114C>T (p.Ser38=)
ClinVar accessionVCV000289017
Last evaluated2025/05/06 00:00

Observed in the general population.

Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the S38= card below and upload it to Wolfram Intelligence to generate therapeutic-strategy proposals matched to this Silent synonymous variant and its domain context.

Download S38= PDF card ↓or markdown ↓

Full Variant Card

S38= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 38 (Serine, S) — amino acid unchanged Domain context: N-terminal cytoplasmic (intrinsically disordered)

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

No amino-acid change (S38 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
  • Associated conditions: WFS1-Related Spectrum Disorders; Autosomal dominant nonsyndromic hearing loss 6; Wolfram syndrome 1
  • cDNA change: c.114C>T
  • ClinVar accession: VCV000289017
  • Last evaluated: 2025/05/06 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:50:33.291850Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.