S1045Y (p.Ser1045Tyr) variant of CFTR (P13569)
S1045Y (p.Ser1045Tyr) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CFTR-related disorder; Cystic fibrosis; Bronchiectasis with or without elevated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S1045Y (p.Ser1045Tyr) variant details
- p.Ser1045Tyr
- rs1584821736
- ClinGen CA368990854
- ClinVar RCV001174678
- ClinVar RCV003473719
- Likely pathogenic
- CFTR-related disorder; Cystic fibrosis; Bronchiectasis with or without elevated
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.89
- MetaSVM 0.95
- CADD 26.20
- ClinVar: Likely pathogenic (CFTR-related disorder; Cystic fibrosis; Bronchiectasis with or w)
- EBI: Likely pathogenic
- UniProt: Likely 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)