RareResearch.AI
← Back to atlas

I338=

SynonymousSilentUncertain significanceTransmembrane · predicted
Synonymous variant · codon at position 338 · Cytoplasmic loop 1 · 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 338 (Cytoplasmic loop 1) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — no amino-acid change
Domain
Cytoplasmic loop 1
Status
—

Therapeutic Implication · Silent

No amino-acid change (I338 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 classificationUncertain significance
Review statuscriteria provided, single submitter
Associated conditions—
Population frequency (gnomAD v4)Absent from gnomAD v4
cDNA changec.1014C>T
Protein consequenceI338=
ClinVar variantNM_006005.3(WFS1):c.1014C>T (p.Ile338=)
ClinVar accessionVCV000502253
Last evaluated2017/05/25 00:00

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

Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the I338= card below and upload it to Wolfram Intelligence to generate therapeutic-strategy proposals matched to this Silent synonymous variant and its domain context.

Download I338= PDF card ↓or markdown ↓

Full Variant Card

I338= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 338 (Isoleucine, I) — amino acid unchanged Domain context: Cytoplasmic loop 1

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

No amino-acid change (I338 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: Uncertain significance
  • Review status: criteria provided, single submitter
  • cDNA change: c.1014C>T
  • ClinVar accession: VCV000502253
  • Last evaluated: 2017/05/25 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:52:27.741009Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.