P45L (p.Pro45Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
P45L (p.Pro45Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- ExAC rs758293405
- gnomAD rs758293405
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.27
- CADD 1.99
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available