Y131* (p.Tyr131Ter) variant of ITPR2 (Q14571)
Y131* (p.Tyr131Ter) in ITPR2 (Q14571) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y131* (p.Tyr131Ter) variant details
- p.Tyr131Ter
- ExAC rs763824951
- TOPMed rs763824951
- gnomAD rs763824951
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available