Q10S (p.Gln10Ser) variant of PKD2 (Polycystin-2)
Q10S (p.Gln10Ser) 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, published literature, and structural context.
Q10S (p.Gln10Ser) variant details
- p.Gln10Ser
- gnomAD 4-88007759-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available