R58H (p.Arg58His) variant of IRF7 (Interferon regulatory factor 7)
R58H (p.Arg58His) 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 0.47 / 1. The record also includes population frequency data and structural context.
R58H (p.Arg58His) variant details
- p.Arg58His
- rs766334448
- ClinGen CA5784077
- ClinVar RCV003588195
- ExAC rs766334448
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.17
- MetaLR 0.78
- MetaSVM 0.16
- CADD 16.40
- PolyPhen-2 0.21
- SIFT 0.08
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available