E78G (p.Glu78Gly) variant of CASP9 (Caspase-9)
E78G (p.Glu78Gly) in CASP9 (Caspase-9) is a missense 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.
E78G (p.Glu78Gly) variant details
- p.Glu78Gly
- ExAC rs779884185
- gnomAD rs779884185
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available