WASF3
Chr 13WASP family member 3
Also known as: Brush-1, SCAR3, WAVE3
The WASF3 protein is a downstream effector that transmits signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton, regulating cell morphology and cytoskeletal organization. Mutations cause autosomal dominant intellectual disability with macrocephaly, seizures, and speech delay. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.467), consistent with its role in essential cellular processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
120 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 | 30 | 0 | 30 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 67 | 3 | 0 | 70 |
Likely Benign | 0 | 3 | 0 | 1 | 4 |
Benign | 0 | 1 | 1 | 2 | 4 |
| Total | 0 | 71 | 35 | 3 | 109 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WASF3 · 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