I1366F (p.Ile1366Phe) variant of CFTR (P13569)
I1366F (p.Ile1366Phe) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
I1366F (p.Ile1366Phe) variant details
- p.Ile1366Phe
- rs770345073
- ClinGen CA4451628
- ClinVar RCV000780133
- ClinVar RCV001825522
- Uncertain significance
- not specified; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.95
- ESM-1b 0.00
- AlphaMissense 0.65
- MetaLR 0.91
- MetaSVM 1.03
- CADD 28.20
- ClinVar: Uncertain significance (not specified; Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)