A24S (p.Ala24Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
A24S (p.Ala24Ser) 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.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- ExAC rs755088914
- gnomAD rs755088914
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.38
- CADD 20.60
- PolyPhen-2 0.57
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available