Q2* (p.Gln2Ter) variant of CFTR (P13569)
Q2* (p.Gln2Ter) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- rs397508740
- ClinGen CA327541
- ClinVar RCV000576848
- ClinVar RCV001775206
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- 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)