R123* (p.Arg123Ter) variant of IFNGR1 (Interferon gamma receptor 1)
R123* (p.Arg123Ter) in IFNGR1 (Interferon gamma receptor 1) 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 0.24 / 1. The record also includes population frequency data and structural context.
R123* (p.Arg123Ter) variant details
- p.Arg123Ter
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10088
- gnomAD rs1779421898
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 22.60
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available