COMMD3

Chr 10

COMM domain containing 3

Also known as: BUP, C10orf8

Predicted to be involved in sodium ion transport. Predicted to be located in extracellular region and ficolin-1-rich granule lumen. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
1.14
LOEUF
Mechanism
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?
1.14LOEUF
pLI 0.000
Z-score 1.20
OE 0.65 (0.391.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.35Z-score
OE missense 1.10 (0.941.28)
113 obs / 103.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.65 (0.391.14)
00.351.4
Missense OE?1.10 (0.941.28)
00.61.4
Synonymous OE?1.36
01.21.6
LoF obs/exp: 9 / 13.8Missense obs/exp: 113 / 103.1Syn Z: -1.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

COMMD3 · 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.

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