I11M (p.Ile11Met) variant of ITPR2 (Q14571)
I11M (p.Ile11Met) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I11M (p.Ile11Met) variant details
- p.Ile11Met
- TOPMed rs1371793048
- gnomAD rs1371793048
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.60
- CADD 22.60
- PolyPhen-2 0.83
- SIFT 0.03
- Population evidence available
- Structural context available