L88F (p.Leu88Phe) variant of SERPINA1 (Alpha-1-antitrypsin)
L88F (p.Leu88Phe) 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.
L88F (p.Leu88Phe) variant details
- p.Leu88Phe
- TOPMed rs1191769902
- gnomAD rs1191769902
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.62
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available