D27E (p.Asp27Glu) variant of CASP9 (Caspase-9)
D27E (p.Asp27Glu) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D27E (p.Asp27Glu) variant details
- p.Asp27Glu
- TOPMed rs1241136502
- gnomAD rs1241136502
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.09
- CADD 22.20
- PolyPhen-2 0.90
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available