K130* (p.Lys130Ter) variant of ITPR2 (Q14571)
K130* (p.Lys130Ter) in ITPR2 (Q14571) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
K130* (p.Lys130Ter) variant details
- p.Lys130Ter
- TOPMed rs1948855386
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 37.00
- Population evidence available
- Structural context available