COMMD5

Chr 8

COMM domain containing 5

Also known as: HCARG, HT002

Predicted to be involved in proximal tubule morphogenesis. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.81
Clinical SummaryCOMMD5
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.81LOEUF
pLI 0.000
Z-score -0.20
OE 1.09 (0.611.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.47Z-score
OE missense 0.89 (0.771.03)
122 obs / 137.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.09 (0.611.81)
00.351.4
Missense OE?0.89 (0.771.03)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 7 / 6.4Missense obs/exp: 122 / 137.3Syn Z: 0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

COMMD5 · 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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