R37H (p.Arg37His) variant of IRF7 (Interferon regulatory factor 7)
R37H (p.Arg37His) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Immunodeficiency 39. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- rs146681075
- ClinGen CA5784094
- ClinVar RCV000970773
- ClinVar RCV003943206
- Benign
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.39
- CADD 9.90
- PolyPhen-2 0.44
- SIFT 0.12
- ClinVar: Benign (Immunodeficiency 39)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.033)
- Structural context available
- Cited in: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. (PMID 32972995)