G236R (p.Gly236Arg) variant of ITPR2 (Q14571)
G236R (p.Gly236Arg) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G236R (p.Gly236Arg) variant details
- p.Gly236Arg
- ExAC rs769018673
- gnomAD rs769018673
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available