S50Y (p.Ser50Tyr) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S50Y (p.Ser50Tyr) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S50Y (p.Ser50Tyr) variant details
- p.Ser50Tyr
- gnomAD 21-33245002-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.28
- CADD 19.60
- PolyPhen-2 0.94
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available