A19V (p.Ala19Val) variant of ITPR2 (Q14571)
A19V (p.Ala19Val) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- TOPMed rs1565795763
- gnomAD rs1565795763
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.63
- CADD 27.80
- PolyPhen-2 0.47
- SIFT 0.01
- Population evidence available
- Structural context available