E18* (p.Glu18Ter) variant of RAD51 (Q06609)
E18* (p.Glu18Ter) in RAD51 (Q06609) 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 0.85 / 1. The record also includes population frequency data and structural context.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- rs1487695348
- NCI-TCGA Cosmic COSV9913
- TOPMed rs1487695348
- gnomAD rs1487695348
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available