EBP p.Ser37del
c.108_110del · VCV4722603
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 6 | GERP 2, phastCons 1 |
Variant & gene context
- Gene
- EBP
- Protein
- p.Ser37del
- Coding
- c.108_110del
- MANE Select
- NM_006579
- Type
- Deletion
- Location
- chrX:48523879 (GRCh38)
- Structure
- AlphaFold pLDDT 59.09
- Residue 37
- the 'disordered' region
Similar variants
- EBP p.Ala54fs Likely pathogenic ★ same type
- EBP p.Asp162fs Pathogenic ★ same type
- EBP p.Phe36fs Pathogenic ★ same type
- EBP p.Ser98fs Pathogenic ★ same type
- EBP p.Thr168fs Likely pathogenic ★ same type
- EBP p.Val43fs Pathogenic ★ same type
- EBP p.Ala225fs Uncertain significance ★ same type
- EBP c.338+10del Likely benign ★ 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/ebp-p-ser37del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown