Y109N (p.Tyr109Asn) variant of CFTR (P13569)
Y109N (p.Tyr109Asn) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y109N (p.Tyr109Asn) variant details
- p.Tyr109Asn
- rs397508522
- ClinGen CA327114
- ClinVar RCV000672235
- ClinVar RCV005031509
- Conflicting interpretations
- Bronchiectasis with or without elevated sweat chloride 1; Hereditary pancreatiti
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.98
- MetaSVM 1.09
- CADD 26.50
- ClinVar: Conflicting classifications of pathogenicity (Bronchiectasis with or without elevated sweat chloride 1; Heredi)
- EBI: Likely pathogenic (in CF)
- UniProt: Likely pathogenic (in CF)
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)