L88V (p.Leu88Val) variant of SERPINA1 (Alpha-1-antitrypsin)
L88V (p.Leu88Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L88V (p.Leu88Val) variant details
- p.Leu88Val
- TOPMed rs1191769902
- gnomAD rs1191769902
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.46
- CADD 22.70
- PolyPhen-2 0.90
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available