R230Q (p.Arg230Gln) variant of ITPR2 (Q14571)
R230Q (p.Arg230Gln) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R230Q (p.Arg230Gln) variant details
- p.Arg230Gln
- TOPMed rs980116007
- gnomAD rs980116007
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.34
- CADD 20.30
- PolyPhen-2 0.05
- SIFT 0.96
- Population evidence available
- Structural context available