SETX p.Ser464Leu
c.1391_1392inv · VCV2947330
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
2
amyotrophic lateral sclerosis type 4
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 -7.4 | GERP -3.3 |
| Regional constraint | o/e 0.91 | unconstrained · MANE · 522 bp · p 0.2 · regional, not allelic |
Variant & gene context
- Gene
- SETX
- Protein
- p.Ser464Leu
- Coding
- c.1391_1392inv
- MANE Select
- NM_015046
- Type
- Inversion
- Location
- chr9:132330206 (GRCh38)
- Gene constraint
- LOEUF 0.442 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 52.93
Disease context
amyotrophic lateral sclerosis type 4 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
For Amyotrophic lateral sclerosis type 4 (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Childhood
Similar variants
- SETX p.Ser464= Likely benign ★ same residue
- SETX c.6843-3_6843-1del Likely pathogenic ★★ same condition
- SETX p.Arg111Ter Pathogenic ★★ same condition
- SETX p.Arg1363Ter Pathogenic ★★ same condition
- SETX p.Arg1606Ter Pathogenic ★★ same condition
- SETX p.Arg1778Ter Pathogenic/Likely pathogenic ★★ same condition
- SETX p.Arg2098Ter Pathogenic ★★ same condition
- SETX p.Arg332Trp Pathogenic/Likely pathogenic ★★ same condition
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/setx-p-ser464leu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown