W19* (p.Trp19Ter) variant of CFTR (P13569)
W19* (p.Trp19Ter) in CFTR (P13569) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
W19* (p.Trp19Ter) variant details
- p.Trp19Ter
- rs397508762
- ClinGen CA368986807
- ClinVar RCV000576462
- ClinVar RCV001283974
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 33.00
- EBI: Pathogenic
- UniProt: 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)