S589N (p.Ser589Asn) variant of CFTR (P13569)
S589N (p.Ser589Asn) 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; not provided; Heredita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S589N (p.Ser589Asn) variant details
- p.Ser589Asn
- rs397508300
- ClinGen CA326665
- ClinVar RCV000757803
- ClinVar RCV001826626
- Pathogenic/Likely pathogenic
- Bronchiectasis with or without elevated sweat chloride 1; not provided; Heredita
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.55
- MetaSVM -0.14
- CADD 27.60
- ClinVar: Pathogenic/Likely pathogenic (Bronchiectasis with or without elevated sweat chloride 1; not pr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)