S5S (p.Ser5Ser) variant of PKD2 (Polycystin-2)
S5S (p.Ser5Ser) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- rs760925232
- gnomAD 4-88007748-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 8.21
- Population evidence available
- Structural context available
- Literature evidence available