EEF2 p.Phe289del
c.866_868del · VCV3361519
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 7.7 | GERP 2.5, phastCons 1 |
Variant & gene context
- Gene
- EEF2
- Protein
- p.Phe289del
- Coding
- c.866_868del
- MANE Select
- NM_001961
- Type
- Deletion
- Location
- chr19:3981976 (GRCh38)
- Gene constraint
- LOEUF 0.39 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 89.97 · 26 PDB
- Residue 289
- the tr-type g domain; an α-helix
Similar variants
- EEF2 p.Phe289= Likely benign ★ same residue
- EEF2 c.1150+1del Uncertain significance ★ same type
- EEF2 c.1346+2_1346+3del Uncertain significance ★ same type
- EEF2 p.Ala148fs Uncertain significance ★ same type
- EEF2 p.Gly242fs Uncertain significance ★ same type
- EEF2 p.Gly620fs Uncertain significance ★ same type
- EEF2 c.1606-13del 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/eef2-p-phe289del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown