H194R (p.His194Arg) variant of ITPR2 (Q14571)
H194R (p.His194Arg) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
H194R (p.His194Arg) variant details
- p.His194Arg
- ExAC rs767300517
- gnomAD rs767300517
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.96
- CADD 25.80
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available