BZW1
Chr 2basic leucine zipper and W2 domains 1
Also known as: 5MP2, BZAP45, Nbla10236
LOEUF 0.35
Clinical Summary— BZW1
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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.94). One damaged copy is likely sufficient to cause disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.35LOEUF
pLI 0.944
Z-score 3.79
OE 0.13 (0.06–0.35)
Highly LoF-intolerant (top ~10% of genes)
Missense Constraint?
3.03Z-score
OE missense 0.42 (0.35–0.50)
90 obs / 215.2 exp
Moderately missense-constrained (top ~2.5%)
Observed / Expected Ratios?
LoF OE?0.13 (0.06–0.35)
0≤0.351.4
Missense OE?0.42 (0.35–0.50)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 3 / 22.3Missense obs/exp: 90 / 215.2Syn Z: -0.95
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BZW1 · 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