S44* (p.Ser44Ter) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S44* (p.Ser44Ter) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S44* (p.Ser44Ter) variant details
- p.Ser44Ter
- gnomAD 21-33244984-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available