SMCO3

Chr 12

single-pass membrane protein with coiled-coil domains 3

Also known as: C12orf69

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.63
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.63LOEUF
pLI 0.014
Z-score 0.62
OE 0.68 (0.311.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.17Z-score
OE missense 1.04 (0.901.21)
125 obs / 119.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.68 (0.311.63)
00.351.4
Missense OE?1.04 (0.901.21)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 3 / 4.4Missense obs/exp: 125 / 119.9Syn Z: 0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SMCO3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →