R45* (p.Arg45Ter) variant of ABCG2 (Q9UNQ0)
R45* (p.Arg45Ter) 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 0.53 / 1. The record also includes population frequency data and structural context.
R45* (p.Arg45Ter) variant details
- p.Arg45Ter
- rs761288842
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52949
- ExAC rs761288842
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available