C61Y (p.Cys61Tyr) variant of ITPR2 (Q14571)
C61Y (p.Cys61Tyr) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C61Y (p.Cys61Tyr) variant details
- p.Cys61Tyr
- 1000Genomes rs571177431
- ExAC rs571177431
- TOPMed rs571177431
- gnomAD rs571177431
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.80
- CADD 24.30
- PolyPhen-2 0.65
- SIFT 0.06
- Population evidence available
- Structural context available