ENG p.Ser411del
c.1231_1233del · VCV4904621
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
ENG-related disorder
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 1.6, phastCons 1 |
Variant & gene context
- Gene
- ENG
- Protein
- p.Ser411del
- Coding
- c.1231_1233del
- MANE Select
- NM_001114753
- Type
- Deletion
- Location
- chr9:127819939 (GRCh38)
- Gene constraint
- LOEUF 0.374 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.84 · 3 PDB
- Residue 411
- the zp domain
Disease context
ENG-related disorder
Similar variants
- ENG p.Ser411fs Pathogenic ★ same residue
- ENG c.1687delG Pathogenic ★★ same condition
- ENG p.Asn423fs Pathogenic ★★ same condition
- ENG p.Ser411= Benign/Likely benign ★★ same residue
- ENG c.1311+4_1311+8del Likely pathogenic ★ same condition
- ENG c.668_689+6del Likely pathogenic ★ same condition
- ENG p.Gly509fs Likely pathogenic ★ same condition
- ENG p.Leu495fs 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/eng-p-ser411del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown