P18T (p.Pro18Thr) variant of PKD2 (Polycystin-2)
P18T (p.Pro18Thr) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- gnomAD 4-88007785-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.12
- CADD 3.25
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available