S53* (p.Ser53Ter) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S53* (p.Ser53Ter) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S53* (p.Ser53Ter) variant details
- p.Ser53Ter
- gnomAD 21-33245011-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 35.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available