S2131R (p.Ser2131Arg) variant of PKD1 (Polycystin-1)
S2131R (p.Ser2131Arg) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S2131R (p.Ser2131Arg) variant details
- p.Ser2131Arg
- rs2151788244
- ClinGen CA394373652
- ClinVar RCV001844978
- Ensembl rs2151788244
- Pathogenic
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.67
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal dominant polycystic kidney disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)