P21T (p.Pro21Thr) variant of PKD2 (Polycystin-2)
P21T (p.Pro21Thr) in PKD2 (Polycystin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- rs1265006798
- TOPMed rs1265006798
- gnomAD rs1265006798
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.02
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available