A55P (p.Ala55Pro) variant of SERPINA1 (Alpha-1-antitrypsin)
A55P (p.Ala55Pro) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A55P (p.Ala55Pro) variant details
- p.Ala55Pro
- ExAC rs753921311
- TOPMed rs753921311
- gnomAD rs753921311
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.61
- CADD 21.80
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available