V233A (p.Val233Ala) variant of ITPR2 (Q14571)
V233A (p.Val233Ala) 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 0.70 / 1. The record also includes population frequency data and structural context.
V233A (p.Val233Ala) variant details
- p.Val233Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.73
- CADD 27.90
- PolyPhen-2 0.91
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available