R100P (p.Arg100Pro) variant of IRF7 (Interferon regulatory factor 7)
R100P (p.Arg100Pro) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R100P (p.Arg100Pro) variant details
- p.Arg100Pro
- rs752300122
- ClinGen CA5784007
- ClinVar RCV000698192
- ClinVar RCV004026434
- Uncertain significance
- Immunodeficiency 39; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.90
- MetaLR 0.92
- MetaSVM 0.91
- CADD 8.81
- PolyPhen-2 0.97
- SIFT 0.07
- ClinVar: Uncertain significance (Immunodeficiency 39; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available