Q26* (p.Gln26Ter) variant of VPS13C (Q709C8)
Q26* (p.Gln26Ter) in VPS13C (Q709C8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- TOPMed rs2048959965
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.844
- CADD 39.00
- Population evidence available
- Structural context available