R56* (p.Arg56Ter) variant of ABCG2 (Q9UNQ0)
R56* (p.Arg56Ter) in ABCG2 (Q9UNQ0) 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 0.90 / 1. The record also includes population frequency data and structural context.
R56* (p.Arg56Ter) variant details
- p.Arg56Ter
- rs201034377
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52948
- 1000Genomes rs201034377
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.901
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available