D14R (p.Asp14Arg) variant of PKD2 (Polycystin-2)
D14R (p.Asp14Arg) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D14R (p.Asp14Arg) variant details
- p.Asp14Arg
- gnomAD 4-88007769-CGG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available