W1282R (p.Trp1282Arg) variant of CFTR (P13569)
W1282R (p.Trp1282Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
W1282R (p.Trp1282Arg) variant details
- p.Trp1282Arg
- rs397508616
- ClinGen CA327304
- ClinVar RCV000577632
- ClinVar RCV003474591
- Pathogenic
- Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.87
- ESM-1b 0.00
- AlphaMissense 0.91
- MetaLR 0.77
- MetaSVM 0.70
- CADD 29.00
- ClinVar: Pathogenic (Bronchiectasis with or without elevated sweat chloride 1; Cystic)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Cited in: Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a… (PMID 1284534)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)