L24* (p.Leu24Ter) variant of CFTR (P13569)
L24* (p.Leu24Ter) in CFTR (P13569) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
L24* (p.Leu24Ter) variant details
- p.Leu24Ter
- rs2484968079
- ClinGen CA368986891
- ClinVar RCV002284583
- Likely pathogenic
- Stop Gained
- 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)