F48S (p.Phe48Ser) variant of IFNAR2 (Interferon alpha/beta receptor 2)
F48S (p.Phe48Ser) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F48S (p.Phe48Ser) variant details
- p.Phe48Ser
- gnomAD rs1427913818
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.52
- CADD 22.60
- PolyPhen-2 0.47
- SIFT 0.08
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available