EIF4H
Chr 7eukaryotic translation initiation factor 4H
Also known as: WBSCR1, WSCR1, eIF-4H
This protein stimulates RNA helicase activity during translation initiation and binds mRNA weakly. EIF4H is deleted in Williams syndrome, a multisystem developmental disorder caused by contiguous gene deletion at 7q11.23. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.548), suggesting some intolerance to complete loss of function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
190 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 | — | — | — | — | 160 |
Likely Pathogenic | — | — | — | — | 6 |
VUS | — | — | — | — | 18 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 0 |
| Total | — | 187 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EIF4H · 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