G236* (p.Gly236Ter) variant of ITPR2 (Q14571)
G236* (p.Gly236Ter) in ITPR2 (Q14571) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G236* (p.Gly236Ter) variant details
- p.Gly236Ter
- ExAC rs769018673
- gnomAD rs769018673
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 39.00
- Population evidence available
- Structural context available