ZNF48
Chr 16zinc finger protein 48
May be involved in transcriptional regulation
ResearchGenerating clinical summary…
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?
0.69LOEUF
pLI 0.007
Z-score 2.56
OE 0.37 (0.21–0.69)
Typical tolerance to LoF variation
Missense Constraint?
1.27Z-score
OE missense 0.82 (0.75–0.90)
333 obs / 405.2 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.37 (0.21–0.69)
0≤0.351.4
Missense OE?0.82 (0.75–0.90)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 7 / 19.1Missense obs/exp: 333 / 405.2Syn Z: 0.72
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
ZNF48 · 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