K14* (p.Lys14Ter) variant of CFTR (P13569)
K14* (p.Lys14Ter) 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 0.47 / 1. The record also includes published literature and structural context.
K14* (p.Lys14Ter) variant details
- p.Lys14Ter
- rs397508673
- ClinGen CA327398
- ClinVar RCV001009425
- ClinVar RCV003466913
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.25
- MetaLR 0.55
- MetaSVM -0.16
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.56
- EBI: Pathogenic
- UniProt: 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)