EPHB4 p.Val871fs
c.2612del · VCV3660884
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 15 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4 | GERP -0.91, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EPHB4
- Protein
- p.Val871fs
- Coding
- c.2612del
- MANE Select
- NM_004444
- Type
- Deletion
- Location
- chr7:100805567 (GRCh38)
- Gene constraint
- LOEUF 0.645 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.46 · 23 PDB
- Residue 871
- an α-helix; a UniProt-annotated variant site (in cmavm2); the protein kinase domain
Similar variants
- EPHB4 c.124-11_124-9del Uncertain significance ★★ same type
- EPHB4 c.52+14_52+15del Benign ★★ same type
- EPHB4 c.52+14del Benign ★★ same type
- EPHB4 c.1691_1691+10del Likely pathogenic ★ same type
- EPHB4 c.50_52+2del Likely pathogenic ★ same type
- EPHB4 p.Ala153fs Pathogenic ★ same type
- EPHB4 p.Ala476fs Likely pathogenic ★ same type
- EPHB4 p.Ala800fs 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-val871fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown