CCZ1B
Chr 7CCZ1B vacuolar protein trafficking and biogenesis associated
LOEUF 1.29
Clinical Summary— CCZ1B
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.29LOEUF
pLI 0.000
Z-score 0.48
OE 0.89 (0.63–1.29)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.35Z-score
OE missense 0.93 (0.82–1.05)
178 obs / 191.6 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.89 (0.63–1.29)
0≤0.351.4
Missense OE?0.93 (0.82–1.05)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 20 / 22.5Missense obs/exp: 178 / 191.6Syn Z: 0.65
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCZ1B · 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