Q5* (p.Gln5Ter) variant of IFNAR2 (Interferon alpha/beta receptor 2)
Q5* (p.Gln5Ter) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- rs1376591604
- gnomAD 21-33241896-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 15.70
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available