S69Y (p.Ser69Tyr) variant of SERPINA1 (Alpha-1-antitrypsin)
S69Y (p.Ser69Tyr) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in M6-Bonn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S69Y (p.Ser69Tyr) variant details
- p.Ser69Tyr
- cosmic curated COSV63345
- ESP rs199687431
- ExAC rs199687431
- TOPMed rs199687431
- Uncertain significance
- in M6-Bonn
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.46
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.00
- EBI: Variant of uncertain significance (in M6-Bonn)
- UniProt: Uncertain significance (in M6-Bonn)
- Population evidence available
- Structural context available