E85A (p.Glu85Ala) variant of ITPR2 (Q14571)
E85A (p.Glu85Ala) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E85A (p.Glu85Ala) variant details
- p.Glu85Ala
- gnomAD rs1948907411
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.66
- CADD 24.10
- Population evidence available
- Structural context available