W17C (p.Trp17Cys) variant of IRF7 (Interferon regulatory factor 7)
W17C (p.Trp17Cys) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 39. The record also includes structural context.
W17C (p.Trp17Cys) variant details
- p.Trp17Cys
- rs2493950396
- ClinGen CA378984900
- ClinVar RCV003828053
- Uncertain significance
- Immunodeficiency 39
- Missense
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available