R73* (p.Arg73Ter) variant of C9ORF72 (Q96LT7)
R73* (p.Arg73Ter) in C9ORF72 (Q96LT7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R73* (p.Arg73Ter) variant details
- p.Arg73Ter
- TOPMed rs1274729596
- gnomAD rs1274729596
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 38.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available