C16R (p.Cys16Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
C16R (p.Cys16Arg) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
C16R (p.Cys16Arg) variant details
- p.Cys16Arg
- gnomAD rs1473667365
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.60
- CADD 23.10
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available