A55T (p.Ala55Thr) variant of SERPINA1 (Alpha-1-antitrypsin)
A55T (p.Ala55Thr) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- ExAC rs753921311
- TOPMed rs753921311
- gnomAD rs753921311
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.28
- CADD 12.80
- PolyPhen-2 0.09
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available