A75T (p.Ala75Thr) variant of ITPR2 (Q14571)
A75T (p.Ala75Thr) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A75T (p.Ala75Thr) variant details
- p.Ala75Thr
- TOPMed rs972966180
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.74
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.06
- Population evidence available
- Structural context available