R230* (p.Arg230Ter) variant of ITPR2 (Q14571)
R230* (p.Arg230Ter) in ITPR2 (Q14571) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R230* (p.Arg230Ter) variant details
- p.Arg230Ter
- TOPMed rs1239360287
- gnomAD rs1239360287
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 36.00
- Population evidence available
- Structural context available