EEF1B2
Chr 2eukaryotic translation elongation factor 1 beta 2
Also known as: EEF1B, EEF1B1, EF1B
This gene encodes a catalytic subunit of the guanine nucleotide exchange factor that stimulates GDP-to-GTP exchange on elongation factor 1A during protein synthesis at the ribosome. Mutations cause autosomal recessive intellectual disability with seizures and language delay, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
72 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 0 | 25 | 0 | 28 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 26 | 4 | 0 | 30 |
Likely Benign | 0 | 1 | 0 | 2 | 3 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 3 | 27 | 31 | 2 | 63 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EEF1B2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools