EPS15
Chr 1epidermal growth factor receptor pathway substrate 15
Also known as: AF-1P, AF1P, MLLT5
This protein functions in receptor-mediated endocytosis, particularly of growth factor receptors like EGFR, and plays a role in clathrin-coated pit assembly and maturation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with early infantile onset, characterized by severe intellectual disability, seizures, and microcephaly. The gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
156 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 | 6 | 0 | 6 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 107 | 5 | 0 | 112 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 109 | 14 | 0 | 123 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EPS15 · 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