EIF3F
Chr 11AReukaryotic translation initiation factor 3 subunit F
Also known as: EIF3S5, MRT67, eIF3-p47
The EIF3F protein is a component of the eukaryotic translation initiation factor 3 complex, which is required for protein synthesis initiation by facilitating ribosome assembly and mRNA recruitment. Mutations cause autosomal recessive intellectual developmental disorder 67. This gene is highly constrained against loss-of-function mutations in the general population, indicating that such variants are likely to be pathogenic when present in the homozygous or compound heterozygous state.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Tolerant to missense variation
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EIF3F · 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
External Resources
Links to major genomics databases and tools