P2L (p.Pro2Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
P2L (p.Pro2Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- ESP rs142288916
- ExAC rs142288916
- TOPMed rs142288916
- gnomAD rs142288916
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.26
- CADD 19.00
- PolyPhen-2 0.60
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available