A66T (p.Ala66Thr) variant of SERPINA1 (Alpha-1-antitrypsin)
A66T (p.Ala66Thr) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- gnomAD rs1897058574
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.30
- CADD 15.30
- PolyPhen-2 0.25
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available