Y62* (p.Tyr62Ter) variant of SERPINA1 (Alpha-1-antitrypsin)
Y62* (p.Tyr62Ter) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Y62* (p.Tyr62Ter) variant details
- p.Tyr62Ter
- rs762321137
- ClinGen CA7327531
- ClinVar RCV000409474
- ExAC rs762321137
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)