E474G (p.Glu474Gly) variant of CFTR (P13569)
E474G (p.Glu474Gly) in CFTR (P13569) is a missense change. Clinical records from ClinVar 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 0.85 / 1. The record also includes population frequency data and structural context.
E474G (p.Glu474Gly) variant details
- p.Glu474Gly
- TOPMed rs1799417658
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.85
- MetaSVM 0.91
- CADD 28.70
- ClinVar: Uncertain significance (Cystic fibrosis)
- UniProt: Uncertain significance
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available