S4* (p.Ser4Ter) variant of CFTR (P13569)
S4* (p.Ser4Ter) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S4* (p.Ser4Ter) variant details
- p.Ser4Ter
- rs397508173
- ClinGen CA326431
- ClinVar RCV000046255
- ClinVar RCV000780154
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- 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)