T221A (p.Thr221Ala) variant of ITPR2 (Q14571)
T221A (p.Thr221Ala) 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.
T221A (p.Thr221Ala) variant details
- p.Thr221Ala
- TOPMed rs554544073
- gnomAD rs554544073
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.56
- CADD 20.60
- PolyPhen-2 0.17
- SIFT 0.56
- Population evidence available
- Structural context available