P19T (p.Pro19Thr) variant of PKD2 (Polycystin-2)
P19T (p.Pro19Thr) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- gnomAD 4-88007788-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.12
- CADD 14.90
- PolyPhen-2 0.16
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available