S38T (p.Ser38Thr) variant of SERPINA1 (Alpha-1-antitrypsin)
S38T (p.Ser38Thr) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S38T (p.Ser38Thr) variant details
- p.Ser38Thr
- ExAC rs769331986
- gnomAD rs769331986
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.30
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available