E33Q (p.Glu33Gln) variant of CASP9 (Caspase-9)
E33Q (p.Glu33Gln) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E33Q (p.Glu33Gln) variant details
- p.Glu33Gln
- ExAC rs780572790
- gnomAD rs780572790
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.11
- CADD 18.10
- PolyPhen-2 0.11
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available