D13E (p.Asp13Glu) variant of ITPR2 (Q14571)
D13E (p.Asp13Glu) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
D13E (p.Asp13Glu) variant details
- p.Asp13Glu
- gnomAD rs1243326320
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.89
- CADD 25.00
- Population evidence available
- Structural context available