Q8R (p.Gln8Arg) variant of PKD2 (Polycystin-2)
Q8R (p.Gln8Arg) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q8R (p.Gln8Arg) variant details
- p.Gln8Arg
- rs2110080023
- ClinGen CA357624815
- ClinVar RCV001958063
- Ensembl rs2110080023
- Uncertain significance
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.10
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.62
- 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)