S3C (p.Ser3Cys) variant of SERPINA1 (Alpha-1-antitrypsin)
S3C (p.Ser3Cys) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- ExAC rs759598955
- TOPMed rs759598955
- gnomAD rs759598955
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available