E55* (p.Glu55Ter) variant of IFNAR2 (Interferon alpha/beta receptor 2)
E55* (p.Glu55Ter) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E55* (p.Glu55Ter) variant details
- p.Glu55Ter
- gnomAD 21-33245016-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 38.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available