R592P (p.Arg592Pro) variant of PKD2 (Polycystin-2)
R592P (p.Arg592Pro) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
R592P (p.Arg592Pro) variant details
- p.Arg592Pro
- rs1445590170
- ClinGen CA357622726
- ClinVar RCV003020531
- Likely pathogenic
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.26
- MetaLR 0.44
- MetaSVM -0.03
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Autosomal dominant polycystic kidney disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)
- Cited in: Spanish guidelines for the management of autosomal dominant polycystic kidney disease. (PMID 25165191)