C16ORF54
Chr 16chromosome 16 open reading frame 54
Also known as: SAIL
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
LOEUF 1.01
Clinical Summary— C16ORF54
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.01LOEUF
pLI 0.367
Z-score 1.58
OE 0.21 (0.07–1.01)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.45Z-score
OE missense 0.88 (0.74–1.04)
92 obs / 105.0 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.21 (0.07–1.01)
0≤0.351.4
Missense OE?0.88 (0.74–1.04)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 1 / 4.7Missense obs/exp: 92 / 105.0Syn Z: -0.21
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C16ORF54 · 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