WNT5B
Chr 12Wnt family member 5B
WNT5B encodes a secreted signaling protein that serves as a ligand for frizzled receptors and functions as a developmental signaling molecule affecting tissue regionalization over short distances. This gene is highly constrained against loss-of-function variants (LOEUF 0.494), suggesting mutations would likely cause severe developmental disorders, though specific associated phenotypes have not yet been clearly established in humans. The inheritance pattern for WNT5B-related disorders remains to be determined as clinical cases are identified.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
121 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 | 62 | 0 | 62 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 38 | 8 | 0 | 46 |
Likely Benign | 0 | 4 | 0 | 2 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 42 | 73 | 2 | 117 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WNT5B · 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