P20L (p.Pro20Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
P20L (p.Pro20Leu) 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.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- Ensembl rs1897078339
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.29
- CADD 12.00
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available