G27E (p.Gly27Glu) variant of CFTR (P13569)
G27E (p.Gly27Glu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bronchiectasis with or without elevated sweat chloride 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- rs397508797
- ClinGen CA327658
- ClinVar RCV000577538
- ClinVar RCV004566888
- Likely pathogenic
- Bronchiectasis with or without elevated sweat chloride 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Bronchiectasis with or without elevated sweat chloride 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)