I471F (p.Ile471Phe) variant of CFTR (P13569)
I471F (p.Ile471Phe) in CFTR (P13569) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I471F (p.Ile471Phe) variant details
- p.Ile471Phe
- rs1459732115
- ClinGen CA368984326
- ClinVar RCV003071899
- Conflicting interpretations
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.93
- MetaSVM 1.08
- CADD 27.50
- ClinVar: Conflicting classifications of pathogenicity (Cystic fibrosis)
- UniProt: Conflicting interpretations
- Most common in the REMAINING population (allele frequency 1.7e-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)