ZEB2 p.Pro514fs
c.1541del · VCV3340765
Pathogenic
Multiple submitters
Classification
Pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 8 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.42 | GERP -3.3, phastCons 0.19 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ZEB2
- Protein
- p.Pro514fs
- Coding
- c.1541del
- MANE Select
- NM_014795
- Type
- Deletion
- Location
- chr2:144399646 (GRCh38)
- Gene constraint
- LOEUF 0.114 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 48.91 · 1 PDB
Similar variants
- ZEB2 p.Pro514Leu Uncertain significance ★★ ⚠ same residue
- ZEB2 p.Pro514= Conflicting classifications of pathogenicity ★ same residue
- ZEB2 p.Ala907fs Pathogenic ★★ same type
- ZEB2 p.Arg953fs Pathogenic ★★ same type
- ZEB2 p.Gly351fs Pathogenic ★★ same type
- ZEB2 p.Lys834fs Pathogenic ★★ same type
- ZEB2 p.Pro906fs Pathogenic ★★ same type
- ZEB2 p.Ser1011fs 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-pro514fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown