C17R (p.Cys17Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
C17R (p.Cys17Arg) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
C17R (p.Cys17Arg) variant details
- p.Cys17Arg
- TOPMed rs1250083377
- gnomAD rs1250083377
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.61
- CADD 22.50
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available