G14S (p.Gly14Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
G14S (p.Gly14Ser) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- TOPMed rs1897081099
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.49
- CADD 22.60
- PolyPhen-2 0.70
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available