E172K (p.Glu172Lys) variant of ITPR2 (Q14571)
E172K (p.Glu172Lys) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E172K (p.Glu172Lys) variant details
- p.Glu172Lys
- gnomAD rs1486489380
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.58
- CADD 22.70
- PolyPhen-2 0.57
- SIFT 0.91
- Population evidence available
- Structural context available