E7* (p.Glu7Ter) variant of CFTR (P13569)
E7* (p.Glu7Ter) in CFTR (P13569) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- rs121909045
- ClinGen CA325613
- ClinVar RCV000007657
- ClinVar RCV000278439
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 0.26
- MetaLR 0.55
- MetaSVM 0.01
- PolyPhen-2 0.72
- SIFT 0.01
- MutPred 0.28
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations. (PMID 12833420)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)