R322W (p.Arg322Trp) variant of PKD2 (Polycystin-2)
R322W (p.Arg322Trp) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant polycystic kidney disease; not provided; Polycystic kidney di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R322W (p.Arg322Trp) variant details
- p.Arg322Trp
- rs1553925453
- ClinGen CA357632796
- NCI-TCGA Cosmic COSV9941
- ClinVar RCV000516923
- Pathogenic/Likely pathogenic
- Autosomal dominant polycystic kidney disease; not provided; Polycystic kidney di
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.84
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant polycystic kidney disease; not provided; Poly)
- EBI: Pathogenic (in PKD2)
- UniProt: Pathogenic (in PKD2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. (PMID 11968093)
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)