CCDC149

Chr 4

coiled-coil domain containing 149

NCBI Gene: 91050ENSG00000181982UniProt: Q6ZUS6

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.77
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.000
Z-score 2.47
OE 0.47 (0.30–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.18Z-score
OE missense 0.80 (0.71–0.89)
214 obs / 268.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.30–0.77)
0≤0.351.4
Missense OE?0.80 (0.71–0.89)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 12 / 25.4Missense obs/exp: 214 / 268.3Syn Z: 0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCDC149 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients