CCDC171

Chr 9

coiled-coil domain containing 171

Also known as: C9orf93, bA536D16.1, bA778P13.1

This gene encodes a coiled-coil domain containing protein whose specific cellular function remains unclear. Mutations cause autosomal recessive sensorineural hearing loss, typically presenting in early childhood. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

LOEUF 1.19
Clinical SummaryCCDC171
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
1.19LOEUF
pLI 0.000
Z-score 0.15
OE 0.98 (0.811.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-3.32Z-score
OE missense 1.36 (1.291.44)
900 obs / 659.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.98 (0.811.19)
00.351.4
Missense OE1.36 (1.291.44)
00.61.4
Synonymous OE1.34
01.21.6
LoF obs/exp: 72 / 73.4Missense obs/exp: 900 / 659.8Syn Z: -4.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCDC171 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found