L90V (p.Leu90Val) variant of SERPINA1 (Alpha-1-antitrypsin)
L90V (p.Leu90Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L90V (p.Leu90Val) variant details
- p.Leu90Val
- gnomAD rs1433266173
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.46
- CADD 22.50
- PolyPhen-2 0.67
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available