M224I (p.Met224Ile) variant of ITPR2 (Q14571)
M224I (p.Met224Ile) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
M224I (p.Met224Ile) variant details
- p.Met224Ile
- ExAC rs773915098
- gnomAD rs773915098
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.87
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available