Q8Q (p.Gln8Gln) variant of PKD2 (Polycystin-2)
Q8Q (p.Gln8Gln) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q8Q (p.Gln8Gln) variant details
- p.Gln8Gln
- gnomAD 4-88007757-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 11.50
- Population evidence available
- Structural context available
- Literature evidence available