R7* (p.Arg7Ter) variant of HLA-B (P01889)
R7* (p.Arg7Ter) in HLA-B (P01889) 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 0.33 / 1. The record also includes population frequency data and structural context.
R7* (p.Arg7Ter) variant details
- p.Arg7Ter
- rs776780353
- NCI-TCGA Cosmic COSV6952
- cosmic curated COSV69520
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00045)
- Structural context available