E37Q (p.Glu37Gln) variant of IFNAR2 (Interferon alpha/beta receptor 2)
E37Q (p.Glu37Gln) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- rs201003373
- ClinGen CA10005561
- ClinVar RCV001977676
- UniProt VAR 084099
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.06
- CADD 5.89
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. (PMID 32972995)