T35A (p.Thr35Ala) variant of SERPINA1 (Alpha-1-antitrypsin)
T35A (p.Thr35Ala) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- TOPMed rs1374116152
- gnomAD rs1374116152
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.42
- CADD 7.40
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available