P24T (p.Pro24Thr) variant of PKD2 (Polycystin-2)
P24T (p.Pro24Thr) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- gnomAD 4-88007803-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.03
- CADD 9.91
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available