K16* (p.Lys16Ter) variant of PKD2 (Polycystin-2)
K16* (p.Lys16Ter) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K16* (p.Lys16Ter) variant details
- p.Lys16Ter
- gnomAD 4-88007779-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available