R64P (p.Arg64Pro) variant of PKD1 (Polycystin-1)
R64P (p.Arg64Pro) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R64P (p.Arg64Pro) variant details
- p.Arg64Pro
- rs1300272809
- ClinGen CA394282229
- ClinVar RCV002293271
- TOPMed rs1300272809
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.02
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00084)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)