E18* (p.Glu18Ter) variant of CASP9 (Caspase-9)
E18* (p.Glu18Ter) in CASP9 (Caspase-9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- TOPMed rs1710341356
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 24.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available