W19C (p.Trp19Cys) variant of CFTR (P13569)
W19C (p.Trp19Cys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
W19C (p.Trp19Cys) variant details
- p.Trp19Cys
- rs397508762
- ClinGen CA327582
- ClinVar RCV000577168
- Ensembl rs397508762
- Likely pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.09
- CADD 32.00
- ClinVar: Likely pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- 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)