Q11S (p.Gln11Ser) variant of PKD2 (Polycystin-2)
Q11S (p.Gln11Ser) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q11S (p.Gln11Ser) variant details
- p.Gln11Ser
- gnomAD 4-88007763-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 23.20
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available