R37C (p.Arg37Cys) variant of IRF7 (Interferon regulatory factor 7)
R37C (p.Arg37Cys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- rs1208973721
- ClinGen CA378984533
- ClinVar RCV001300816
- gnomAD rs1208973721
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.15
- MetaLR 0.95
- MetaSVM 1.07
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available