C5ORF46
Chr 5chromosome 5 open reading frame 46
Also known as: AP-64, SSSP1
Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.47LOEUF
pLI 0.072
Z-score 0.96
OE 0.49 (0.20–1.47)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.33Z-score
OE missense 0.87 (0.68–1.12)
42 obs / 48.4 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.49 (0.20–1.47)
0≤0.351.4
Missense OE?0.87 (0.68–1.12)
0≤0.61.4
Synonymous OE?1.32
0≤1.21.6
LoF obs/exp: 2 / 4.1Missense obs/exp: 42 / 48.4Syn Z: -1.13
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C5ORF46 · 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