I105N (p.Ile105Asn) variant of CFTR (P13569)
I105N (p.Ile105Asn) 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; Hereditary pancreatiti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
I105N (p.Ile105Asn) variant details
- p.Ile105Asn
- rs397508509
- ClinGen CA327065
- ClinVar RCV001382997
- ClinVar RCV001826657
- Pathogenic/Likely pathogenic
- Bronchiectasis with or without elevated sweat chloride 1; Hereditary pancreatiti
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bronchiectasis with or without elevated sweat chloride 1; Heredi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)