E54D (p.Glu54Asp) variant of IFNAR1 (Interferon alpha/beta receptor 1)
E54D (p.Glu54Asp) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- gnomAD 21-33335609-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.15
- MetaLR 0.19
- MetaSVM -0.93
- CADD 0.01
- PolyPhen-2 0.04
- SIFT 0.87
- Population evidence available
- Structural context available
- Literature evidence available