CCDC80
Chr 3coiled-coil domain containing 80
Promotes cell adhesion and matrix assembly
ResearchGenerating clinical summary…
Some data sources returned errors (2)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
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?
0.65LOEUF
pLI 0.000
Z-score 3.19
OE 0.42 (0.28–0.65)
Typical tolerance to LoF variation
Missense Constraint?
0.44Z-score
OE missense 0.95 (0.88–1.02)
522 obs / 551.1 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.42 (0.28–0.65)
0≤0.351.4
Missense OE?0.95 (0.88–1.02)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 15 / 35.5Missense obs/exp: 522 / 551.1Syn Z: -0.30
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
CCDC80 · 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