Ivacaftor response - Efficacy: genes and variants
Ivacaftor response - Efficacy is linked to 1 analyzed protein (CFTR). 4 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Ivacaftor response - Efficacy
CFTR: Cystic fibrosis transmembrane conductance regulator
An epithelial chloride channel and regulator of salt and water movement across cell surfaces. Its activity helps keep airway, intestinal, and other epithelial fluids balanced, while CFTR disruption causes cystic fibrosis and related disorders.
4 disease-causing and 0 uncertain variants in CFTR are linked to Ivacaftor response - Efficacy.
Known disease-causing variants in Ivacaftor response - Efficacy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CFTR S945L | 945 | ABC transmembrane type-1 2 | Disease-causing (★★★) |
| CFTR G1244E | 1244 | ABC transporter 2 | Disease-causing (★★★) |
| CFTR P67L | 67 | Cytoplasmic | Disease-causing (★★★) |
| CFTR E193K | 193 | ABC transmembrane type-1 1 | Disease-causing (★★★) |
Same protein, different disease
- Cystic fibrosis is also caused by CFTR variants; they fall mostly in different places as the Ivacaftor response - Efficacy variants (155 disease-causing).
- Bronchiectasis with or without elevated sweat chloride 1 is also caused by CFTR variants; they fall mostly in different places as the Ivacaftor response - Efficacy variants (18 disease-causing).
- Congenital bilateral aplasia of vas deferens from CFTR mutation is also caused by CFTR variants; they fall mostly in different places as the Ivacaftor response - Efficacy variants (10 disease-causing).
- Hereditary pancreatitis is also caused by CFTR variants; they fall mostly in different places as the Ivacaftor response - Efficacy variants (7 disease-causing).
Diseases related to Ivacaftor response - Efficacy
- Cystic fibrosis, also linked to CFTR
- Bronchiectasis with or without elevated sweat chloride 1, also linked to CFTR
- Congenital bilateral aplasia of vas deferens from CFTR mutation, also linked to CFTR
- Hereditary pancreatitis, also linked to CFTR
Frequently asked questions
Which genes are linked to Ivacaftor response - Efficacy?
In CATVariant, Ivacaftor response - Efficacy is linked to 1 analyzed protein: CFTR (Cystic fibrosis transmembrane conductance regulator).
How many genetic variants are linked to Ivacaftor response - Efficacy?
13 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ivacaftor response - Efficacy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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