W1098C (p.Trp1098Cys) variant of CFTR (P13569)
W1098C (p.Trp1098Cys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
W1098C (p.Trp1098Cys) variant details
- p.Trp1098Cys
- rs397508533
- ClinGen CA368992416
- ClinVar RCV000757800
- ClinVar RCV001004306
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.86
- MetaSVM 0.91
- CADD 31.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)