S227G (p.Ser227Gly) variant of ITPR2 (Q14571)
S227G (p.Ser227Gly) in ITPR2 (Q14571) is a missense change. 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.
S227G (p.Ser227Gly) variant details
- p.Ser227Gly
- gnomAD rs1355795763
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.80
- CADD 24.10
- PolyPhen-2 0.79
- SIFT 0.13
- Population evidence available
- Structural context available