T221S (p.Thr221Ser) variant of ITPR2 (Q14571)
T221S (p.Thr221Ser) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T221S (p.Thr221Ser) variant details
- p.Thr221Ser
- TOPMed rs554544073
- gnomAD rs554544073
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.40
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.78
- Population evidence available
- Structural context available