E7Q (p.Glu7Gln) variant of CFTR (P13569)
E7Q (p.Glu7Gln) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- ExAC rs121909045
- TOPMed rs121909045
- gnomAD rs121909045
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.55
- MetaSVM 0.01
- CADD 27.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available