R322Q (p.Arg322Gln) variant of PKD2 (Polycystin-2)
R322Q (p.Arg322Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R322Q (p.Arg322Gln) variant details
- p.Arg322Gln
- rs145877597
- ClinGen CA3003851
- NCI-TCGA Cosmic COSV9941
- ClinVar RCV000987457
- Pathogenic/Likely pathogenic
- Polycystic kidney disease 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.89
- AlphaMissense 0.56
- MetaLR 0.90
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Polycystic kidney disease 2; not provided)
- EBI: Pathogenic (in PKD2)
- UniProt: Pathogenic (in PKD2)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. (PMID 15772804)
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)