D13Y (p.Asp13Tyr) variant of ITPR2 (Q14571)
D13Y (p.Asp13Tyr) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
D13Y (p.Asp13Tyr) variant details
- p.Asp13Tyr
- TOPMed rs1356550882
- gnomAD rs1356550882
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.93
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available