Q8* (p.Gln8Ter) variant of PKD2 (Polycystin-2)
Q8* (p.Gln8Ter) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Q8* (p.Gln8Ter) variant details
- p.Gln8Ter
- ExAC rs766216683
- gnomAD rs766216683
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 36.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available