E33* (p.Glu33Ter) variant of CASP9 (Caspase-9)
E33* (p.Glu33Ter) in CASP9 (Caspase-9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- ExAC rs780572790
- gnomAD rs780572790
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available