G112E (p.Gly112Glu) variant of ITPR2 (Q14571)
G112E (p.Gly112Glu) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G112E (p.Gly112Glu) variant details
- p.Gly112Glu
- TOPMed rs1948890889
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.87
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available