C18ORF54
Chr 18chromosome 18 open reading frame 54
Also known as: LAS2
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jun 2026]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.000
Z-score 1.11
OE 0.70 (0.44–1.16)
Highly tolerant — LoF variants common in population
Missense Constraint?
-0.57Z-score
OE missense 1.11 (1.00–1.25)
218 obs / 195.7 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.70 (0.44–1.16)
0≤0.351.4
Missense OE?1.11 (1.00–1.25)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 11 / 15.8Missense obs/exp: 218 / 195.7Syn Z: 0.35
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C18ORF54 · 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