I636=
SynonymousSilentLikely benignTransmembrane · predictedSilent — Silent — no amino-acid change
Interactive 3D Structure
AlphaFold wild-type wolframin · the variant site near residue 636 (C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)) is highlighted.
Variant Assessment
Therapeutic Implication · Silent
Clinical Evidence
Observed at very low frequency in gnomAD.
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Full Variant Card
I636= — WFS1 Molecular Atlas Card
Variant type: Synonymous (silent) Codon: position 636 (Isoleucine, I) — 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 (I636 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: criteria provided, single submitter
- cDNA change: c.1908C>T
- ClinVar accession: VCV001587940
- Last evaluated: 2025/09/01 00:00
- Submissions: 1
Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:55:19.981215Z.
WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.