E78D (p.Glu78Asp) variant of CASP9 (Caspase-9)
E78D (p.Glu78Asp) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E78D (p.Glu78Asp) variant details
- p.Glu78Asp
- ESP rs369699275
- ExAC rs369699275
- TOPMed rs369699275
- gnomAD rs369699275
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.06
- CADD 19.40
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available