D14D (p.Asp14Asp) variant of PKD2 (Polycystin-2)
D14D (p.Asp14Asp) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D14D (p.Asp14Asp) variant details
- p.Asp14Asp
- gnomAD 4-88007775-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 10.50
- Population evidence available
- Structural context available
- Literature evidence available