ZEB2 p.Ala53Phe
c.157_158delinsTT · VCV3778622
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 5.2 | GERP 2.1, phastCons 1 |
| Regional constraint | o/e 0.79 | unconstrained · MANE · 112 kb · p 0.0024 · regional, not allelic |
Variant & gene context
- Gene
- ZEB2
- Protein
- p.Ala53Phe
- Coding
- c.157_158delinsTT
- MANE Select
- NM_014795
- Type
- Indel
- Location
- chr2:144429942 (GRCh38)
- Gene constraint
- LOEUF 0.114 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 48.91 · 1 PDB
- Residue 53
- the 'disordered' region
Similar variants
- ZEB2 p.Ala53Asp Conflicting classifications of pathogenicity ★ ⚠ same residue
- ZEB2 p.Asn873_Asn874delinsLysTyr Uncertain significance ★★ same type
- ZEB2 p.Asp527fs Pathogenic ★ same type
- ZEB2 p.Gly1120fs Pathogenic ★ same type
- ZEB2 p.His321fs Pathogenic ★ same type
- ZEB2 p.Lys298Ter Pathogenic ★ same type
- ZEB2 p.Ser162delinsAlaSerLeuThrSerProTyrProProLeuLeuThrTyrTrpGluAsnSerLeuCysTer Pathogenic ★ same type
- ZEB2 p.Ser352fs Pathogenic ★ 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/zeb2-p-ala53phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown