I121T (p.Ile121Thr) variant of ITPR2 (Q14571)
I121T (p.Ile121Thr) 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.
I121T (p.Ile121Thr) variant details
- p.Ile121Thr
- gnomAD rs1198702808
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.94
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available