E20G (p.Glu20Gly) variant of ITPR2 (Q14571)
E20G (p.Glu20Gly) 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.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- TOPMed rs1266844865
- gnomAD rs1266844865
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.83
- CADD 33.00
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available