L45S (p.Leu45Ser) variant of IFNAR2 (Interferon alpha/beta receptor 2)
L45S (p.Leu45Ser) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L45S (p.Leu45Ser) variant details
- p.Leu45Ser
- TOPMed rs1461393554
- gnomAD rs1461393554
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.15
- CADD 20.90
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available