R28W (p.Arg28Trp) variant of PKD2 (Polycystin-2)
R28W (p.Arg28Trp) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R28W (p.Arg28Trp) variant details
- p.Arg28Trp
- rs2476356645
- ClinGen CA357625069
- ClinVar RCV002575037
- ClinVar RCV002575038
- Uncertain significance
- Inborn genetic diseases; Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal dominant polycystic kidney di)
- EBI: Variant of uncertain significance (in dbSNP:rs1805044)
- UniProt: Uncertain significance (in dbSNP:rs1805044)
- 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)