L887=
SynonymousSilentLikely benignLumenal · predictedSilent — Silent — no amino-acid change
Interactive 3D Structure
AlphaFold wild-type wolframin · the variant site near residue 887 (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
L887= — WFS1 Molecular Atlas Card
Variant type: Synonymous (silent) Codon: position 887 (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 (L887 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.2659C>T
- ClinVar accession: VCV002159044
- Last evaluated: 2022/11/22 00:00
- Submissions: 1
Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:57:02.994540Z.
WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.