E37D (p.Glu37Asp) variant of IFNAR2 (Interferon alpha/beta receptor 2)
E37D (p.Glu37Asp) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E37D (p.Glu37Asp) variant details
- p.Glu37Asp
- gnomAD 21-33241896-CAAGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available