P2S (p.Pro2Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
P2S (p.Pro2Ser) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- ExAC rs757174326
- gnomAD rs757174326
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.36
- CADD 1.02
- PolyPhen-2 0.20
- SIFT 0.34
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available