R440S (p.Arg440Ser) variant of PKD2 (Polycystin-2)
R440S (p.Arg440Ser) 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 not provided; Autosomal dominant polycystic kidney disease; Polycystic kidney di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R440S (p.Arg440Ser) variant details
- p.Arg440Ser
- rs886041114
- ClinGen CA357618352
- ClinVar RCV001002301
- ClinVar RCV001221367
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant polycystic kidney disease; Polycystic kidney di
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.55
- CADD 33.00
- PolyPhen-2 0.30
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant polycystic kidney disease; Poly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.8e-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)