E104Q (p.Glu104Gln) variant of ITPR2 (Q14571)
E104Q (p.Glu104Gln) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E104Q (p.Glu104Gln) variant details
- p.Glu104Gln
- ESP rs369326833
- TOPMed rs369326833
- gnomAD rs369326833
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.68
- CADD 26.20
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available