A211V (p.Ala211Val) variant of ITPR2 (Q14571)
A211V (p.Ala211Val) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A211V (p.Ala211Val) variant details
- p.Ala211Val
- gnomAD rs1186332516
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.52
- CADD 22.70
- PolyPhen-2 0.44
- SIFT 1.00
- Population evidence available
- Structural context available