I126L (p.Ile126Leu) variant of ITPR2 (Q14571)
I126L (p.Ile126Leu) in ITPR2 (Q14571) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I126L (p.Ile126Leu) variant details
- p.Ile126Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.28
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available