E54G (p.Glu54Gly) variant of CFTR (P13569)
E54G (p.Glu54Gly) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E54G (p.Glu54Gly) variant details
- p.Glu54Gly
- rs1320388257
- ClinGen CA368987542
- ClinVar RCV002401033
- TOPMed rs1320388257
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.88
- ESM-1b 0.84
- AlphaMissense 0.68
- MetaLR 0.92
- MetaSVM 1.03
- CADD 28.80
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- 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)