M224V (p.Met224Val) variant of ITPR2 (Q14571)
M224V (p.Met224Val) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M224V (p.Met224Val) variant details
- p.Met224Val
- gnomAD rs1308957478
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.88
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available