CFAP418
Chr 8ARcilia and flagella associated protein 418
Also known as: BBS21, C8orf37, CORD16, FAP418, MOT25, RP64, smalltalk
The encoded protein localizes to the base of primary cilia and may be involved in photoreceptor outer segment disk morphogenesis. Mutations cause autosomal recessive retinal dystrophies including cone-rod dystrophy, retinitis pigmentosa, and Bardet-Biedl syndrome. This gene follows autosomal recessive inheritance and shows low constraint against loss-of-function variants (pLI <0.01, LOEUF 1.42).
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CFAP418 · 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