E85K (p.Glu85Lys) variant of ITPR2 (Q14571)
E85K (p.Glu85Lys) 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.
E85K (p.Glu85Lys) variant details
- p.Glu85Lys
- cosmic curated COSV54384
- TOPMed rs1190602890
- gnomAD rs1190602890
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.49
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available