P165L (p.Pro165Leu) variant of ITPR2 (Q14571)
P165L (p.Pro165Leu) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P165L (p.Pro165Leu) variant details
- p.Pro165Leu
- TOPMed rs1284086754
- gnomAD rs1284086754
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.93
- CADD 24.60
- PolyPhen-2 0.49
- SIFT 0.05
- Population evidence available
- Structural context available