W54* (p.Trp54Ter) variant of IFNAR2 (Interferon alpha/beta receptor 2)
W54* (p.Trp54Ter) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
W54* (p.Trp54Ter) variant details
- p.Trp54Ter
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV5975
- cosmic curated COSV59750
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available