P12P (p.Pro12Pro) variant of PKD2 (Polycystin-2)
P12P (p.Pro12Pro) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P12P (p.Pro12Pro) variant details
- p.Pro12Pro
- gnomAD 4-88007769-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available