I601F (p.Ile601Phe) variant of CFTR (P13569)
I601F (p.Ile601Phe) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
I601F (p.Ile601Phe) variant details
- p.Ile601Phe
- rs397508306
- ClinGen CA326681
- ClinVar RCV000577043
- ClinVar RCV001009373
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.57
- MetaSVM -0.07
- CADD 26.70
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis… (PMID 9736778)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)