Q54* (p.Gln54Ter) variant of CASP9 (Caspase-9)
Q54* (p.Gln54Ter) in CASP9 (Caspase-9) 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.
Q54* (p.Gln54Ter) variant details
- p.Gln54Ter
- gnomAD rs1222258542
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available