SETD1A p.Glu455Val
c.1364_1365inv · VCV3372957
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 9.2 | GERP 2.5, phastCons 1 |
| Regional constraint | o/e 1.04 | unconstrained · MANE · 1,694 bp · p 0.44 · regional, not allelic |
Variant & gene context
- Gene
- SETD1A
- Protein
- p.Glu455Val
- Coding
- c.1364_1365inv
- MANE Select
- NM_014712
- Type
- Inversion
- Location
- chr16:30965106 (GRCh38)
- Gene constraint
- LOEUF 0.279 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 49.20 · 4 PDB
- Residue 455
- a UniProt-annotated variant site (in nedsid); the 'disordered' region
Similar variants
- SETD1A p.Glu455del Conflicting classifications of pathogenicity ★ same residue
- SETD1A p.Ser586Asp 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/setd1a-p-glu455val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown