R350P (p.Arg350Pro) variant of CLCN5 (P51795)
R350P (p.Arg350Pro) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R350P (p.Arg350Pro) variant details
- p.Arg350Pro
- rs151340628
- ClinGen CA121689
- ClinVar RCV000012573
- UniProt VAR 001619
- Pathogenic
- Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.88
- ClinVar: Pathogenic (Proteinuria, low molecular weight, with hypercalciuria and nephr)
- EBI: Pathogenic (in LMWPHN)
- UniProt: Pathogenic (in LMWPHN)
- Structural context available
- Cited in: Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological… (PMID 19019917)
- Cited in: Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due… (PMID 9062355)