S3Y (p.Ser3Tyr) variant of SERPINA1 (Alpha-1-antitrypsin)
S3Y (p.Ser3Tyr) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S3Y (p.Ser3Tyr) variant details
- p.Ser3Tyr
- ExAC rs759598955
- TOPMed rs759598955
- gnomAD rs759598955
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.34
- CADD 22.90
- PolyPhen-2 0.66
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available