CFAP410
Chr 21ARcilia and flagella associated protein 410
Also known as: C21orf2, LRRC76, RDMS, SMDAX, YF5/A2
CFAP410 encodes a protein with leucine-rich repeats that functions in cilia formation and maintenance, cytoskeletal organization, and DNA damage repair. Mutations cause autosomal recessive retinal dystrophy with macular staphyloma and spondylometaphyseal dysplasia with axial involvement, affecting both ocular and skeletal systems. The gene is not highly constrained against loss-of-function variants (LOEUF 1.396).
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CFAP410 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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