P3T (p.Pro3Thr) variant of PKD1 (Polycystin-1)
P3T (p.Pro3Thr) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P3T (p.Pro3Thr) variant details
- p.Pro3Thr
- TOPMed rs1457976484
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.04
- CADD 22.80
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 4.7e-05)
- Structural context available