R325Q (p.Arg325Gln) variant of PKD2 (Polycystin-2)
R325Q (p.Arg325Gln) 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 Polycystic kidney disease 2; PKD2-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R325Q (p.Arg325Gln) variant details
- p.Arg325Gln
- rs1727420867
- ClinGen CA357632833
- NCI-TCGA Cosmic COSV5293
- ClinVar RCV001095617
- Pathogenic/Likely pathogenic
- Polycystic kidney disease 2; PKD2-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.53
- CADD 22.80
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Polycystic kidney disease 2; PKD2-related disorder; Inborn genet)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)