G57R (p.Gly57Arg) variant of IFNAR1 (Interferon alpha/beta receptor 1)
G57R (p.Gly57Arg) in IFNAR1 (Interferon alpha/beta receptor 1) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- rs201532160
- ClinGen CA10006404
- ClinVar RCV001940852
- UniProt VAR 084086
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.97
- CADD 0.02
- PolyPhen-2 0.01
- SIFT 0.91
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available
- Cited in: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. (PMID 32972995)