A153V (p.Ala153Val) variant of ITPR2 (Q14571)
A153V (p.Ala153Val) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A153V (p.Ala153Val) variant details
- p.Ala153Val
- ExAC rs746723932
- gnomAD rs746723932
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.32
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available