EEF1D

Chr 8AR

eukaryotic translation elongation factor 1 delta

Also known as: EF-1D, EF1D, FP1047, NEDTCHAL

NCBI Gene: 1936ENSG00000104529UniProt: P29692

The protein functions as a guanine nucleotide exchange factor within the elongation factor-1 complex, stimulating GDP to GTP exchange to regenerate EF-1-alpha for delivering aminoacyl tRNAs to the ribosome during protein synthesis. Biallelic mutations cause an autosomal recessive neurodevelopmental disorder characterized by thin corpus callosum, hypotonia, and absent language development. The gene shows low constraint against loss-of-function variants (LOEUF 0.838), suggesting some tolerance to heterozygous disruption.

Summary from RefSeq, OMIM, UniProt
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Primary Disease Associations & Inheritance

Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent languageMIM #621150
AR
0
Active trials
4
Pubs (1 yr)
71
P/LP submissions
3%
P/LP missense
0.84
LOEUF
DN
Mechanism· predicted
Clinical Summary— EEF1D
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
69 unique Pathogenic / Likely Pathogenic· 136 VUS of 276 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.84LOEUF
pLI 0.000
Z-score 2.20
OE 0.54 (0.35–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.08Z-score
OE missense 1.01 (0.93–1.10)
409 obs / 404.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.54 (0.35–0.84)
0≤0.351.4
Missense OE1.01 (0.93–1.10)
0≤0.61.4
Synonymous OE1.11
0≤1.21.6
LoF obs/exp: 14 / 26.1Missense obs/exp: 409 / 404.4Syn Z: -1.12
DN
0.7034th %ile
GOF
0.4184th %ile
LOF
0.3261th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

276 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic59
Likely Pathogenic10
VUS136
Likely Benign18
Benign13
Conflicting1
59
Pathogenic
10
Likely Pathogenic
136
VUS
18
Likely Benign
13
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
1
57
0
59
Likely Pathogenic
1
1
8
0
10
VUS
2
125
9
0
136
Likely Benign
0
12
1
5
18
Benign
0
4
1
8
13
Conflicting
—1
Total41437613237

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

EEF1D · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients