S5V (p.Ser5Val) variant of PKD2 (Polycystin-2)
S5V (p.Ser5Val) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S5V (p.Ser5Val) variant details
- p.Ser5Val
- gnomAD 4-88007743-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available