EAF1
Chr 3ELL associated factor 1
EAF1 encodes a transcriptional transactivator that enhances the elongation activities of ELL and ELL2 transcription factors, functioning as part of the transcription elongation factor complex. Mutations cause autosomal recessive intellectual disability with speech delay and behavioral abnormalities, typically manifesting in early childhood. The gene shows moderate tolerance to loss-of-function variants based on population genetics data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
74 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 | 0 | 0 | 23 | 0 | 23 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 33 | 1 | 0 | 34 |
Likely Benign | 0 | 1 | 1 | 0 | 2 |
Benign | 0 | 0 | 0 | 2 | 2 |
| Total | 0 | 34 | 26 | 2 | 62 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EAF1 · 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