W19G (p.Trp19Gly) variant of IFNAR1 (Interferon alpha/beta receptor 1)
W19G (p.Trp19Gly) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
W19G (p.Trp19Gly) variant details
- p.Trp19Gly
- rs1227854358
- ClinGen CA410105013
- ClinVar RCV001876300
- TOPMed rs1227854358
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.35
- MetaLR 0.40
- MetaSVM -0.75
- CADD 24.70
- PolyPhen-2 0.82
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available