CLASP2
Chr 3cytoplasmic linker associated protein 2
The protein stabilizes microtubules at their growing ends and is essential for proper chromosome alignment during cell division and microtubule organization in migrating cells. Mutations cause neurodevelopmental disorders with intellectual disability and epilepsy, typically with autosomal dominant inheritance. This gene is extremely intolerant to loss-of-function mutations (pLI ~1.0), indicating that even single gene copies are critical for normal neurological development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
199 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 | 17 | 0 | 17 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 112 | 4 | 0 | 116 |
Likely Benign | 0 | 1 | 4 | 11 | 16 |
Benign | 0 | 4 | 2 | 5 | 11 |
| Total | 0 | 117 | 27 | 16 | 160 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CLASP2 · 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