CFAP45
Chr 1ARcilia and flagella associated protein 45
Also known as: CCDC19, HTX11, NESG1
Primary Disease Associations & Inheritance
Heterotaxy, visceral, 11, autosomal, with male infertilityMIM #619608
AR
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.000
Z-score 1.57
OE 0.72 (0.53–1.00)
Typical tolerance to LoF variation
Missense Constraint?
-0.55Z-score
OE missense 1.08 (0.99–1.18)
356 obs / 328.1 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.72 (0.53–1.00)
0≤0.351.4
Missense OE?1.08 (0.99–1.18)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 26 / 36.2Missense obs/exp: 356 / 328.1Syn Z: 1.18
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CFAP45 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools