I198M (p.Ile198Met) variant of ITPR2 (Q14571)
I198M (p.Ile198Met) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I198M (p.Ile198Met) variant details
- p.Ile198Met
- gnomAD rs1287858503
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.39
- CADD 17.10
- PolyPhen-2 0.46
- SIFT 0.13
- Population evidence available
- Structural context available