SELENOO
Chr 22selenoprotein O
Also known as: SELO
This gene encodes a large mitochondrial selenoprotein that catalyzes AMPylation of serine, threonine, and tyrosine residues in target proteins and may have redox activity. The gene is highly tolerant to loss-of-function variants (LOEUF 1.69), and no definitive human disease associations have been established for SELENOO mutations. Clinical significance of variants in this gene remains uncertain.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
379 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 139 | 0 | 139 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 190 | 16 | 0 | 206 |
Likely Benign | 0 | 8 | 1 | 2 | 11 |
Benign | 0 | 0 | 2 | 1 | 3 |
Conflicting | — | 1 | |||
| Total | 0 | 198 | 159 | 3 | 361 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SELENOO · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools