R22H (p.Arg22His) variant of PKD2 (Polycystin-2)
R22H (p.Arg22His) 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; Polycystic kidney disease 2; Inbor. 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.
R22H (p.Arg22His) variant details
- p.Arg22His
- rs1450630438
- ClinGen CA357624997
- ClinVar RCV002926817
- ClinVar RCV004753588
- Uncertain significance
- Autosomal dominant polycystic kidney disease; Polycystic kidney disease 2; Inbor
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.05
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Autosomal dominant polycystic kidney disease; Polycystic kidney)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- 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)