Q10* (p.Gln10Ter) variant of PKD2 (Polycystin-2)
Q10* (p.Gln10Ter) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q10* (p.Gln10Ter) variant details
- p.Gln10Ter
- gnomAD 4-88007761-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available