CEP57L1
Chr 6centrosomal protein 57 like 1
Also known as: C6orf182, bA487F23.2, cep57R
Enables identical protein binding activity. Predicted to be located in microtubule. Predicted to be active in centrosome. [provided by Alliance of Genome Resources, Jun 2026]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.94LOEUF
pLI 0.000
Z-score 1.79
OE 0.62 (0.42–0.94)
Typical tolerance to LoF variation
Missense Constraint?
-0.01Z-score
OE missense 1.00 (0.90–1.12)
226 obs / 225.7 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.62 (0.42–0.94)
0≤0.351.4
Missense OE?1.00 (0.90–1.12)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 16 / 25.8Missense obs/exp: 226 / 225.7Syn Z: 0.68
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CEP57L1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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