K16S (p.Lys16Ser) variant of PKD2 (Polycystin-2)
K16S (p.Lys16Ser) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K16S (p.Lys16Ser) variant details
- p.Lys16Ser
- gnomAD 4-88007776-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available