Q34* (p.Gln34Ter) variant of IFNAR1 (Interferon alpha/beta receptor 1)
Q34* (p.Gln34Ter) in IFNAR1 (Interferon alpha/beta receptor 1) 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.
Q34* (p.Gln34Ter) variant details
- p.Gln34Ter
- rs367718640
- ClinGen CA10006388
- ClinVar RCV003852712
- ESP rs367718640
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available