T216I (p.Thr216Ile) variant of ITPR2 (Q14571)
T216I (p.Thr216Ile) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
T216I (p.Thr216Ile) variant details
- p.Thr216Ile
- gnomAD rs1281683856
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.97
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available