I1005R (p.Ile1005Arg) variant of CFTR (P13569)
I1005R (p.Ile1005Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bronchiectasis with or without elevated sweat chloride 1; CFTR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
I1005R (p.Ile1005Arg) variant details
- p.Ile1005Arg
- rs397508479
- ClinGen CA327012
- ClinVar RCV000577028
- ClinVar RCV003474564
- Pathogenic/Likely pathogenic
- Bronchiectasis with or without elevated sweat chloride 1; CFTR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.89
- MetaSVM 1.01
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bronchiectasis with or without elevated sweat chloride 1; CFTR-r)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Population evidence available
- Structural context available
- Cited in: Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. (PMID 7525450)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)