F85S (p.Phe85Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
F85S (p.Phe85Ser) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
F85S (p.Phe85Ser) variant details
- p.Phe85Ser
- gnomAD rs1370857918
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.77
- CADD 25.70
- PolyPhen-2 0.88
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available