R22S (p.Arg22Ser) variant of PKD2 (Polycystin-2)
R22S (p.Arg22Ser) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal dominant polycystic kidney disease. 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.
R22S (p.Arg22Ser) variant details
- p.Arg22Ser
- rs1338261349
- ClinGen CA357624991
- ClinVar RCV002774901
- ClinVar RCV004067894
- Uncertain significance
- Inborn genetic diseases; Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.07
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal dominant polycystic kidney di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)