Q11* (p.Gln11Ter) variant of PKD2 (Polycystin-2)
Q11* (p.Gln11Ter) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q11* (p.Gln11Ter) variant details
- p.Gln11Ter
- gnomAD 4-88007764-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 36.00
- Most common in the REMAINING population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available