EIF1
Chr 17eukaryotic translation initiation factor 1
Also known as: A121, EIF-1, EIF1A, ISO1, SUI1
The protein functions as a critical component of the ribosomal translation initiation machinery, facilitating mRNA scanning and start codon recognition as part of the 43S and 48S preinitiation complexes. EIF1 is highly intolerant to loss-of-function mutations (pLI 0.83, LOEUF 0.51), but no specific diseases have been definitively linked to EIF1 mutations in the current literature. Loss-of-function mutations would be expected to cause severe developmental disorders through disruption of protein synthesis, likely following an autosomal recessive inheritance pattern.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
15 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 6 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 7 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EIF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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