I114T (p.Ile114Thr) variant of ITPR2 (Q14571)
I114T (p.Ile114Thr) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I114T (p.Ile114Thr) variant details
- p.Ile114Thr
- gnomAD rs1407509475
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.72
- CADD 25.80
- PolyPhen-2 0.52
- SIFT 0.01
- Population evidence available
- Structural context available