CIMAP1B

Chr 22

ciliary microtubule associated protein 1B

Also known as: FAP123, ODF3B, ODF3L3

NCBI Gene: 440836ENSG00000177989UniProt: A8MYP8

Predicted to be located in motile cilium. Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

201
ClinVar variants
143
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CIMAP1B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
143 Pathogenic / Likely Pathogenic· 49 VUS of 201 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.10LOEUF
pLI 0.005
Z-score 1.35
OE 0.53 (0.27–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.89Z-score
OE missense 0.77 (0.65–0.92)
91 obs / 118.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.53 (0.27–1.10)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.77 (0.65–0.92)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.97
0≤1.21.6
LoF obs/exp: 5 / 9.5Missense obs/exp: 91 / 118.3Syn Z: 0.16

ClinVar Variant Classifications

201 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic142
Likely Pathogenic1
VUS49
Likely Benign2
Benign2
142
Pathogenic
1
Likely Pathogenic
49
VUS
2
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
142
0
142
Likely Pathogenic
0
0
1
0
1
VUS
0
35
14
0
49
Likely Benign
0
0
2
0
2
Benign
0
0
2
0
2
Total0351610196

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CIMAP1B · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for CIMAP1B

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