S589I (p.Ser589Ile) variant of CFTR (P13569)
S589I (p.Ser589Ile) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
S589I (p.Ser589Ile) variant details
- p.Ser589Ile
- rs397508300
- ClinGen CA326669
- ClinVar RCV000577310
- ClinVar RCV001004272
- Pathogenic/Likely pathogenic
- Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- ESM-1b 0.95
- AlphaMissense 0.09
- MetaLR 0.55
- MetaSVM -0.14
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (Cystic fibrosis; Congenital bilateral aplasia of vas deferens fr)
- 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)