EPHB4 p.Arg4fs
c.10dup · VCV3600714
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.8 | GERP 0.68, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EPHB4
- Protein
- p.Arg4fs
- Coding
- c.10dup
- MANE Select
- NM_004444
- Type
- Duplication
- Location
- chr7:100827020 (GRCh38)
- Gene constraint
- LOEUF 0.645 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.46 · 23 PDB
Similar variants
- EPHB4 p.Arg4Gln Uncertain significance ★ ⚠ same residue
- EPHB4 p.Arg4Trp Uncertain significance ★ ⚠ same residue
- EPHB4 p.Asn675fs Pathogenic ★★ same type
- EPHB4 p.Leu347fs Pathogenic ★★ same type
- EPHB4 c.2484+2dup Likely pathogenic ★ same type
- EPHB4 p.Arg316fs Pathogenic ★ same type
- EPHB4 p.Arg483fs Pathogenic ★ same type
- EPHB4 p.Asn295Ter Likely 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/ephb4-p-arg4fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown