T96A (p.Thr96Ala) variant of SERPINA1 (Alpha-1-antitrypsin)
T96A (p.Thr96Ala) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T96A (p.Thr96Ala) variant details
- p.Thr96Ala
- ESP rs376616935
- ExAC rs376616935
- TOPMed rs376616935
- gnomAD rs376616935
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.84
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available