Q237E (p.Gln237Glu) variant of CFTR (P13569)
Q237E (p.Gln237Glu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CFTR-related disorder; Cystic fibrosis; Bronchiectasis with or without elevated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Q237E (p.Gln237Glu) variant details
- p.Gln237Glu
- rs397508784
- ClinGen CA327627
- ClinVar RCV000577019
- ClinVar RCV002281557
- Pathogenic/Likely pathogenic
- CFTR-related disorder; Cystic fibrosis; Bronchiectasis with or without elevated
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.46
- MetaLR 0.84
- MetaSVM 0.86
- CADD 24.50
- ClinVar: Pathogenic/Likely pathogenic (CFTR-related disorder; Cystic fibrosis; Bronchiectasis with or w)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- 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)