R46L (p.Arg46Leu) variant of IFNAR2 (Interferon alpha/beta receptor 2)
R46L (p.Arg46Leu) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- gnomAD 21-33244990-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.29
- CADD 20.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available