E104Q (p.Glu104Gln) variant of CASP9 (Caspase-9)
E104Q (p.Glu104Gln) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E104Q (p.Glu104Gln) variant details
- p.Glu104Gln
- ExAC rs772667285
- gnomAD rs772667285
- Missense
- Variant Prioritization Score for Impact Estimate 0.0966
- REVEL 0.03
- CADD 2.89
- PolyPhen-2 0.03
- SIFT 0.59
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available