R100H (p.Arg100His) variant of IRF7 (Interferon regulatory factor 7)
R100H (p.Arg100His) 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 0.26 / 1. The record also includes population frequency data and structural context.
R100H (p.Arg100His) variant details
- p.Arg100His
- ExAC rs752300122
- TOPMed rs752300122
- gnomAD rs752300122
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- AlphaMissense 0.07
- MetaLR 0.80
- MetaSVM 0.20
- CADD 1.85
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available