C39F (p.Cys39Phe) variant of IFNAR2 (Interferon alpha/beta receptor 2)
C39F (p.Cys39Phe) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
C39F (p.Cys39Phe) variant details
- p.Cys39Phe
- gnomAD 21-33230541-A-ATT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.71
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available