C39* (p.Cys39Ter) variant of IFNAR2 (Interferon alpha/beta receptor 2)
C39* (p.Cys39Ter) 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 0.88 / 1. The record also includes population frequency data and structural context.
C39* (p.Cys39Ter) variant details
- p.Cys39Ter
- rs1164631131
- ClinGen CA410095465
- ClinVar RCV002040769
- TOPMed rs1164631131
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.878
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available