P12T (p.Pro12Thr) variant of PKD2 (Polycystin-2)
P12T (p.Pro12Thr) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD 4-88007767-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.11
- CADD 22.10
- PolyPhen-2 0.18
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available