W7* (p.Trp7Ter) variant of SERPINA1 (Alpha-1-antitrypsin)
W7* (p.Trp7Ter) in SERPINA1 (Alpha-1-antitrypsin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
W7* (p.Trp7Ter) variant details
- p.Trp7Ter
- rs370038282
- ClinGen CA16041710
- ClinVar RCV000411794
- ESP rs370038282
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 33.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of… (PMID 14522813)
- Cited in: [American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of… (PMID 15685488)