V239I (p.Val239Ile) variant of ITPR2 (Q14571)
V239I (p.Val239Ile) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V239I (p.Val239Ile) variant details
- p.Val239Ile
- TOPMed rs1948722475
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.69
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available