D14T (p.Asp14Thr) variant of PKD2 (Polycystin-2)
D14T (p.Asp14Thr) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D14T (p.Asp14Thr) variant details
- p.Asp14Thr
- gnomAD 4-88007766-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available