EPHB4 p.Cys253Ser
c.758_759delinsCT · VCV3370094
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 2.1 | GERP -1, phastCons 1 |
| Regional constraint | o/e 0.88 | unconstrained · MANE · 14 kb · p 0.00047 · regional, not allelic |
Variant & gene context
- Gene
- EPHB4
- Protein
- p.Cys253Ser
- Coding
- c.758_759delinsCT
- MANE Select
- NM_004444
- Type
- Indel
- Location
- chr7:100822320 (GRCh38)
- Gene constraint
- LOEUF 0.645 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.46 · 23 PDB
- Residue 253
- a UniProt-annotated variant site (in cmavm2)
Similar variants
- EPHB4 p.Cys253Arg Uncertain significance ★ ⚠ same residue
- EPHB4 p.Cys253Tyr Uncertain significance ★ ⚠ same residue
- EPHB4 p.Glu154fs Likely pathogenic ★ same type
- EPHB4 p.Lys616fs Likely pathogenic ★ same type
- EPHB4 c.52+14_52+15delinsGC Uncertain significance ★ same type
- EPHB4 p.Arg206Leu Uncertain significance ★ same type
- EPHB4 p.Gln851Pro 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/ephb4-p-cys253ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown