L15W (p.Leu15Trp) variant of IFNAR2 (Interferon alpha/beta receptor 2)
L15W (p.Leu15Trp) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L15W (p.Leu15Trp) variant details
- p.Leu15Trp
- rs755873190
- ClinGen CA10005502
- ClinVar RCV001926646
- ClinVar RCV004927759
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.49
- CADD 17.30
- PolyPhen-2 0.38
- SIFT 0.04
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available