E474Q (p.Glu474Gln) variant of CFTR (P13569)
E474Q (p.Glu474Gln) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E474Q (p.Glu474Gln) variant details
- p.Glu474Gln
- rs756206533
- ClinGen CA4451003
- ClinVar RCV003618939
- ExAC rs756206533
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.79
- MetaSVM 0.73
- CADD 26.60
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- 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)