I126M (p.Ile126Met) variant of ITPR2 (Q14571)
I126M (p.Ile126Met) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I126M (p.Ile126Met) variant details
- p.Ile126Met
- Ensembl rs1948855528
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.31
- CADD 16.20
- PolyPhen-2 0.11
- SIFT 0.56
- Population evidence available
- Structural context available