I14T (p.Ile14Thr) variant of ITPR2 (Q14571)
I14T (p.Ile14Thr) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
I14T (p.Ile14Thr) variant details
- p.Ile14Thr
- gnomAD rs1421561422
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.89
- CADD 29.30
- PolyPhen-2 0.96
- SIFT 0.05
- Population evidence available
- Structural context available