G13R (p.Gly13Arg) variant of PKD2 (Polycystin-2)
G13R (p.Gly13Arg) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs1228430587
- ClinGen CA357624878
- ClinVar RCV003746365
- TOPMed rs1228430587
- Uncertain significance
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.05
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal dominant polycystic kidney disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- 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)