L90R (p.Leu90Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
L90R (p.Leu90Arg) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L90R (p.Leu90Arg) variant details
- p.Leu90Arg
- 1000Genomes rs564267551
- ExAC rs564267551
- TOPMed rs564267551
- gnomAD rs564267551
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.68
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available