CCDC166

Chr 8

coiled-coil domain containing 166

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.66
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.66LOEUF
pLI 0.003
Z-score 0.47
OE 0.77 (0.381.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.03Z-score
OE missense 0.81 (0.720.92)
193 obs / 237.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.381.66)
00.351.4
Missense OE?0.81 (0.720.92)
00.61.4
Synonymous OE?0.73
01.21.6
LoF obs/exp: 4 / 5.2Missense obs/exp: 193 / 237.5Syn Z: 2.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCDC166 · 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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