SMS p.Leu26Val
c.75_76delinsAG · VCV4949278
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.36 | GERP -1.8, phastCons 0.99 |
| Regional constraint | o/e 0.38 | unconstrained · MANE · 31 kb · p 1.5e-06 · regional, not allelic |
Variant & gene context
- Gene
- SMS
- Protein
- p.Leu26Val
- Coding
- c.75_76delinsAG
- MANE Select
- NM_004595
- Type
- Indel
- Location
- chrX:21967221 (GRCh38)
- Structure
- AlphaFold pLDDT 95.09 · 2 PDB
- Residue 26
- an α-helix
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/sms-p-leu26val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown