CNTNAP3B
Chr 9contactin associated protein family member 3B
The protein is predicted to function in cell adhesion and is located in cellular membranes. Mutations in this gene cause neurodevelopmental disorders with intellectual disability, though the clinical phenotype is not well-characterized given limited reported cases. The gene shows very low constraint against loss-of-function variants (high LOEUF score), suggesting it may tolerate some degree of functional disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
300 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 | 2 | 0 | 2 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 270 | 0 | 0 | 270 |
Likely Benign | 0 | 16 | 2 | 6 | 24 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 286 | 5 | 6 | 297 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CNTNAP3B · 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 →No open access results found
External Resources
Links to major genomics databases and tools