G44W (p.Gly44Trp) variant of ITPR2 (Q14571)
G44W (p.Gly44Trp) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G44W (p.Gly44Trp) variant details
- p.Gly44Trp
- gnomAD rs1950318864
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.87
- CADD 27.00
- Population evidence available
- Structural context available