CIMAP1B

Chr 22

ciliary microtubule associated protein 1B

Also known as: FAP123, ODF3B, ODF3L3

NCBI Gene: 440836 ENSG00000177989 UniProt: A8MYP8 OMIM: 621607

The CIMAP1B protein is predicted to localize to motile cilia and function in cytoskeletal organization. Mutations cause autosomal recessive disorders affecting ciliary function, though specific phenotypes are not well-characterized. The gene shows tolerance to loss-of-function variants (pLI = 0.005, LOEUF = 1.11), consistent with recessive inheritance.

OMIM ResearchSummary from RefSeq

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

OMIM ResearchGenerating clinical summary…

LOEUF 1.10

Clinical Summary— CIMAP1B

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

37 VUS of 42 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

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?

0.89Z-score

OE missense 0.77 (0.65–0.92)

91 obs / 118.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.53 (0.27–1.10)

0≤0.351.4

Missense OE?0.77 (0.65–0.92)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 5 / 9.5Missense obs/exp: 91 / 118.3Syn Z: 0.16

ClinVar Variant Classifications

42 submitted variants in ClinVar

ClinVar

Classification Summary

VUS37

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	37	37
Likely Benign	0	0
Benign	0	0
Total	37	37

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

View in ClinVar →

147 pathogenic / likely-pathogenic (of 166) ClinVar copy-number / structural variants overlap CIMAP1B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →