L23Q (p.Leu23Gln) variant of SERPINA1 (Alpha-1-antitrypsin)
L23Q (p.Leu23Gln) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L23Q (p.Leu23Gln) variant details
- p.Leu23Gln
- TOPMed rs1379209512
- gnomAD rs1379209512
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.46
- CADD 16.20
- PolyPhen-2 0.41
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available