R88H (p.Arg88His) variant of IRF7 (Interferon regulatory factor 7)
R88H (p.Arg88His) 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 0.72 / 1. The record also includes population frequency data and structural context.
R88H (p.Arg88His) variant details
- p.Arg88His
- rs766683434
- ClinGen CA5784018
- ClinVar RCV004131313
- ClinVar RCV005099709
- Uncertain significance
- Immunodeficiency 39; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- AlphaMissense 0.69
- MetaLR 0.93
- MetaSVM 0.62
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 39; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available