E33* (p.Glu33Ter) variant of CFTR (P13569)
E33* (p.Glu33Ter) in CFTR (P13569) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- rs1798379068
- ClinGen CA368987092
- ClinVar RCV002284553
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.10
- MetaLR 0.83
- MetaSVM 0.66
- PolyPhen-2 0.56
- SIFT 0.12
- EVE 0.71
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)