G27* (p.Gly27Ter) variant of CFTR (P13569)
G27* (p.Gly27Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G27* (p.Gly27Ter) variant details
- p.Gly27Ter
- rs397508796
- ClinGen CA327656
- ClinVar RCV000047257
- ClinVar RCV001831803
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)