S28I (p.Ser28Ile) variant of ITPR2 (Q14571)
S28I (p.Ser28Ile) 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 0.73 / 1. The record also includes population frequency data and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.84
- CADD 26.60
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available