SETX p.Val2387Cys
c.7159_7160delinsTG · VCV3900576
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
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 11 | GERP 1.8, phastCons 1 |
| Regional constraint | o/e 0.70 | unconstrained · MANE · 32 kb · p 3e-13 · regional, not allelic |
Variant & gene context
- Gene
- SETX
- Protein
- p.Val2387Cys
- Coding
- c.7159_7160delinsTG
- MANE Select
- NM_015046
- Type
- Indel
- Location
- chr9:132271749 (GRCh38)
- Gene constraint
- LOEUF 0.442 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 52.93
- Residue 2387
- the upf1-type sf1b helicase c-terminal domain
Similar variants
- SETX p.Val2387Gly Uncertain significance ★ ⚠ same residue
- SETX p.Val2387Phe Uncertain significance ★ ⚠ same residue
- SETX p.Asp1937Tyr Uncertain significance ★★ same type
- SETX c.6843-4_6843-1delinsTA Pathogenic ★ same type
- SETX p.Gln2588_Gln2589delinsHisTer Uncertain significance ★ same type
- SETX p.Glu2642Leu Uncertain significance ★ same type
- SETX p.Gly1292Phe Uncertain significance ★ same type
- SETX p.Leu459_Ile461delinsPhe Uncertain significance ★ same type
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-val2387cys (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown