P3R (p.Pro3Arg) variant of PKD1 (Polycystin-1)
P3R (p.Pro3Arg) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- 1000Genomes rs937825645
- TOPMed rs937825645
- gnomAD rs937825645
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.04
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.015)
- Structural context available