C17F (p.Cys17Phe) variant of SERPINA1 (Alpha-1-antitrypsin)
C17F (p.Cys17Phe) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
C17F (p.Cys17Phe) variant details
- p.Cys17Phe
- TOPMed rs1176919060
- gnomAD rs1176919060
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.49
- CADD 14.20
- PolyPhen-2 0.71
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available