CLASP1

Chr 2

cytoplasmic linker associated protein 1

Also known as: MAST1

CLASP1 encodes a microtubule plus-end tracking protein that stabilizes dynamic microtubules and is essential for proper chromosome alignment during cell division. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.176), suggesting mutations would likely cause severe developmental consequences. However, no specific genetic disorders have been definitively associated with CLASP1 mutations in humans to date.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.18
Clinical SummaryCLASP1
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint
0.18LOEUF
pLI 1.000
Z-score 7.86
OE 0.10 (0.060.18)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.61Z-score
OE missense 0.65 (0.610.70)
560 obs / 857.8 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.10 (0.060.18)
00.351.4
Missense OE0.65 (0.610.70)
00.61.4
Synonymous OE0.98
01.21.6
LoF obs/exp: 9 / 89.0Missense obs/exp: 560 / 857.8Syn Z: 0.30
DN
0.4587th %ile
GOF
0.4184th %ile
LOF
0.75top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.18

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CLASP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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