Q5L (p.Gln5Leu) variant of IFNAR2 (Interferon alpha/beta receptor 2)
Q5L (p.Gln5Leu) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q5L (p.Gln5Leu) variant details
- p.Gln5Leu
- rs775090074
- gnomAD 21-33241932-AGCCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 22.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available