W57G (p.Trp57Gly) variant of CFTR (P13569)
W57G (p.Trp57Gly) 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 0.86 / 1. The record also includes published literature and structural context.
W57G (p.Trp57Gly) variant details
- p.Trp57Gly
- rs397508272
- ClinGen CA326617
- ClinVar RCV000577563
- ClinVar RCV003114230
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.83
- MetaSVM 0.72
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Structural context available
- Cited in: Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects… (PMID 7544319)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)