I1023R (p.Ile1023Arg) variant of CFTR (P13569)
I1023R (p.Ile1023Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; CFTR-related disorder; Bronchiectasis with or without elevated swe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
I1023R (p.Ile1023Arg) variant details
- p.Ile1023Arg
- rs756219310
- ClinGen CA4451372
- ClinVar RCV001226278
- ClinVar RCV003471940
- Pathogenic/Likely pathogenic
- not provided; CFTR-related disorder; Bronchiectasis with or without elevated swe
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.58
- MetaSVM 0.03
- PolyPhen-2 0.32
- SIFT 0.13
- ClinVar: Pathogenic/Likely pathogenic (not provided; CFTR-related disorder; Bronchiectasis with or with)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)