IFT57
Chr 3ARintraflagellar transport 57
Also known as: ESRRBL1, HIPPI, MHS4R2, OFD18
IFT57 encodes a protein required for cilia formation and plays a role in sonic hedgehog signaling and localization of specific G protein-coupled receptors to primary cilia. Biallelic mutations cause orofaciodigital syndrome XVIII, inherited in an autosomal recessive pattern. The gene shows high constraint against loss-of-function variants, with a very low pLI score and LOEUF of 1.096.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IFT57 · 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