P35T (p.Pro35Thr) variant of PKD1 (Polycystin-1)
P35T (p.Pro35Thr) in PKD1 (Polycystin-1) 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 0.17 / 1. The record also includes population frequency data and structural context.
P35T (p.Pro35Thr) variant details
- p.Pro35Thr
- 1000Genomes rs1016742393
- TOPMed rs1016742393
- gnomAD rs1016742393
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -0.99
- CADD 13.40
- PolyPhen-2 0.09
- SIFT 0.78
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available