G8S (p.Gly8Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
G8S (p.Gly8Ser) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- TOPMed rs1410013401
- gnomAD rs1410013401
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.38
- CADD 14.20
- PolyPhen-2 0.12
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available