R6H (p.Arg6His) variant of PKD2 (Polycystin-2)
R6H (p.Arg6His) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- rs1307960365
- ClinGen CA357624804
- ClinVar RCV002907688
- TOPMed rs1307960365
- Uncertain significance
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal dominant polycystic kidney disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- 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)