C206Y (p.Cys206Tyr) variant of ITPR2 (Q14571)
C206Y (p.Cys206Tyr) 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.
C206Y (p.Cys206Tyr) variant details
- p.Cys206Tyr
- ExAC rs769903343
- gnomAD rs769903343
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.86
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available