Q77H (p.Gln77His) variant of ITPR2 (Q14571)
Q77H (p.Gln77His) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q77H (p.Gln77His) variant details
- p.Gln77His
- gnomAD rs1185726988
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.62
- CADD 22.60
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available