E55K (p.Glu55Lys) variant of IFNAR2 (Interferon alpha/beta receptor 2)
E55K (p.Glu55Lys) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- gnomAD 21-33245016-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.21
- CADD 19.30
- PolyPhen-2 0.18
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available