E152* (p.Glu152Ter) variant of C9ORF72 (Q96LT7)
E152* (p.Glu152Ter) in C9ORF72 (Q96LT7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E152* (p.Glu152Ter) variant details
- p.Glu152Ter
- TOPMed rs1819450324
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 44.00
- Population evidence available
- Structural context available