CCDC82
Chr 11coiled-coil domain containing 82
Also known as: HSPC048
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.000
Z-score 2.14
OE 0.56 (0.37–0.86)
Typical tolerance to LoF variation
Missense Constraint?
0.08Z-score
OE missense 0.99 (0.89–1.09)
275 obs / 278.9 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.56 (0.37–0.86)
0≤0.351.4
Missense OE?0.99 (0.89–1.09)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 15 / 27.0Missense obs/exp: 275 / 278.9Syn Z: 0.35
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCDC82 · 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