A154V (p.Ala154Val) variant of ITPR2 (Q14571)
A154V (p.Ala154Val) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A154V (p.Ala154Val) variant details
- p.Ala154Val
- ExAC rs779168277
- TOPMed rs779168277
- gnomAD rs779168277
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.46
- CADD 23.50
- PolyPhen-2 0.18
- SIFT 0.23
- Population evidence available
- Structural context available