L23I (p.Leu23Ile) variant of IFNAR2 (Interferon alpha/beta receptor 2)
L23I (p.Leu23Ile) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L23I (p.Leu23Ile) variant details
- p.Leu23Ile
- ExAC rs773217322
- gnomAD rs773217322
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.19
- CADD 20.80
- PolyPhen-2 0.84
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available