CCDC158

Chr 4

coiled-coil domain containing 158

Enables clathrin binding activity. Involved in receptor-mediated endocytosis. Located in clathrin-coated vesicle and early endosome. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
0.97
LOEUF
DN
Mechanism· predicted
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?
0.97LOEUF
pLI 0.000
Z-score 1.76
OE 0.76 (0.600.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.23Z-score
OE missense 1.03 (0.961.10)
593 obs / 577.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.76 (0.600.97)
00.351.4
Missense OE?1.03 (0.961.10)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 47 / 62.0Missense obs/exp: 593 / 577.5Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCDC158 · 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 →