L17I (p.Leu17Ile) variant of IFNAR2 (Interferon alpha/beta receptor 2)
L17I (p.Leu17Ile) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L17I (p.Leu17Ile) variant details
- p.Leu17Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.32
- CADD 17.70
- PolyPhen-2 0.94
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available