E3D (p.Glu3Asp) variant of ITPR2 (Q14571)
E3D (p.Glu3Asp) in ITPR2 (Q14571) 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.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- TOPMed rs1289532251
- gnomAD rs1289532251
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.30
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available