R46* (p.Arg46Ter) variant of IFNAR2 (Interferon alpha/beta receptor 2)
R46* (p.Arg46Ter) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R46* (p.Arg46Ter) variant details
- p.Arg46Ter
- rs778657924
- ClinGen CA10005567
- ClinVar RCV002635186
- ExAC rs778657924
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available